ACTA1 - actin alpha 1, skeletal muscle Gene

Homo sapiens

Also known as ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM

Gene ID: 58 | Gene type: protein coding

About ACTA1

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,431,245-229,434,094 (from NCBI)

This gene has 3 transcripts (splice variants), 352 orthologues, 26 paralogues and is associated with 13 phenotypes. Biased expression in heart (RPKM 1670.9), esophagus (RPKM 297.6) and 1 other tissue.

Summary

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]

ACTA1 Products(2)

mRNA	Protein	Name
NM_001100.4	NP_001091.1	actin, alpha skeletal muscle
NM_001100.4	NP_001091.1	actin, alpha skeletal muscle

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12849983	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in skeletal muscle thin filament assembly	IMP IMP: Inferred from mutant phenotype	11333380	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in actin cytoskeleton	IMP IMP: Inferred from mutant phenotype	15198992	GOA
located in actin filament	IDA IDA: Inferred from direct assay	12849983	GOA
located in sarcomere	IDA IDA: Inferred from direct assay	1423520	GOA
located in stress fiber	IDA IDA: Inferred from direct assay	15198992	GOA
located in striated muscle thin filament	IDA IDA: Inferred from direct assay	15198992	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACTA1 Protein Structure

Actin

0
100
200
300
377 a.a.

Protein Preferred Names

Protein Names

actin, alpha skeletal muscle

nemaline myopathy type 3

ACTA1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ACTA1	P68133	CAMK2A	Homo sapiens	Q9UQM7	Y2H Pooling	32814053
Intra	ACTA1	P68133	CAMK2A	Homo sapiens	Q9UQM7	Validated Y2H	32814053
Intra	ACTA1	P68133	CAMK2A	Homo sapiens	Q9UQM7	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Myopathy, Scapulohumeroperoneal

Progressive Scapulohumeroperoneal Distal Myopathy

SHPM

Nemaline Myopathy 3

Nemaline Myopathy 3, Autosomal Dominant Or Recessive	Congenital Myopathy With Excess Of Thin Filaments
NEM3	Myopathy, Actin, Congenital, With Cores
Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments	Actin-Accumulation Myopathy
Actin Myopathy	Actin Accumulation Myopathy
Actin Filament Aggregate Myopathy	Nemaline Myopathy, Type 3
MPCETM	Acta1-Related Nemaline Myopathy
Actin Myopathy Congenital With Cores	Nemaline Myopathy 3 With Intranuclear Rods
Myopathy, Nemaline, Type 3

Myopathy, Congenital, With Fiber-Type Disproportion

CFTD	Fiber-Type Disproportion Myopathy, Congenital
Cftdm	Myopathy, Congenital, With Fiber-Type Disproportion 1
Congenital Fiber-Type Disproportion Myopathy	Myopathy, Congenital, With Fiber Type Disproportion

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

Zebra Body Myopathy

Childhood-Onset Nemaline Myopathy

Mild Nemaline Myopathy

Nemaline Myopathy, Childhood Onset

Typical Congenital Nemaline Myopathy

Typical Nemaline Myopathy

Intermediate Congenital Nemaline Myopathy

Intermediate Nemaline Myopathy

Intermediate Congenital Nm

Severe Congenital Nemaline Myopathy

Severe Congenital Nm

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome	RSMD1
Rss	Mdrs1
Eichsfeld Type Congenital Muscular Dystrophy	Desmin-Related Myopathy With Mallory Bodies
Classic Multiminicore Myopathy	Sepn1-Related Myopathy
Multicore Myopathy, Severe Classic Form	Minicore Myopathy, Severe Classic Form
Multiminicore Disease, Severe Classic Form	Muscular Dystrophy, Rigid Spine, 1
Classic Mmd	Classic Multiminicore Disease
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity	Desmin-Related Myopathy With Mallory Body-Like Inclusions
Early-Onset Desmin-Related Myopathy	Myopathy, Sepn1-Related
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity	Muscular Dystrophy, Congenital, Eichsfeld Type
Severe Classic Form Minicore Myopathy	Severe Classic Form Multicore Myopathy
Severe Classic Form Multiminicore Disease	Desmin-Related Myopathies With Mallory Bodies
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity	Rigid Spine Muscular Dystrophy-1
Rigid Spine Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Eichsfeld Type
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity	Minicore Myopathy Severe Classic Form
Multicore Myopathy Severe Classic Form	Multiminicore Disease Severe Classic Form
Dystrophy, Muscular, Rigid Spine, Type 1

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Hydrops Fetalis, Nonimmune

Hydrops Fetalis	Non-Immune Hydrops Fetalis
NIHF	Familial Non-Immune Hydrops Fetalis
Hydrops Fetalis Nonimmune	Idiopathic Hydrops Fetalis
Hb Bart'S Hydrops Fetalis	Alpha-Thalassemia Hydrops Fetalis
Alpha-Thalassemia Major	Hemoglobin Bart'S Hydrops Fetalis
Homozygous Alpha0-Thalassemia	Fetal Anasarca
Fetal Hydrops	Generalized Fetal Edema
Hf	Non-Immune Hf
Non-Immune Fetal Edema	Non-Immune Fetal Hydrops
Hydrops Fetalis, Non-Immune	Hemoglobin Bart'S Hydrops Syndrome

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Nemaline Myopathy

Rod Myopathy	Nemaline Body Disease
Nemaline Rod Myopathy	Myopathies, Nemaline
Nm	Nemaline Rod Disease
Rod Body Disease	Rod-Body Myopathy
Myopathy, Nemaline	Congenital Rod Disease
Nem	Nemaline Bodies
Myopathies Nemaline

Congenital Myopathy With Cores

Rigid Spine Muscular Dystrophy

Congenital Muscular Dystrophy With Spine Rigidity Syndrome	Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity
Rigid Spinal Muscular Dystrophy	Rigid Spine Congenital Muscular Dystrophy
Rsmd	Congenital Muscular Dystrophy With Rigid Spine
Dystrophy, Muscular, Rigid Spine

Myopathy

Muscular Diseases

Myopathies

Listeriosis

Listeria Infection	Infection By Listeria Monocytogenes
Listeria Monocytogenes Infection	Listeria Infections
Listerial Foodborne Infection	Circling Disease
Infection Due To Listeria Monocytogenes	Listerellosis

Foot Drop

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2	Ataxia With Oculomotor Apraxia Type 2
Scar1	SCAN2
Ataxia-Oculomotor Apraxia 2	Ataxia-Ocular Apraxia 2
Ataxia-Oculomotor Apraxia Type 2	Scan 2
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
Scar1, Formerly	Autosomal Recessive Spinocerebellar Ataxia-1
Spinocerebellar Ataxia, Autosomal Recessive, 1	Ataxia-Ocular Apraxia-2
Spinocerebellar Ataxia, Autosomal Recessive 1

Congenital Structural Myopathy

Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction	Chronic Intestinal Pseudo-Obstruction
Cipo	Neuronal Intestinal Dysplasia
Hollow Visceral Myopathy	Familial Visceral Neuropathy
Paralytic Ileus	Intestinal Pseudoobstruction
Chronic Idiopathic Intestinal Pseudo-Obstruction	Ciip
Congenital Short Bowel Syndrome	Enteric Neuropathy
Familial Visceral Myopathy	Ipo
Pseudo-Obstruction Of Intestine	Pseudointestinal Obstruction Syndrome
Pseudoobstructive Syndrome	Congenital Idiopathic Intestinal Pseudoobstruction
Visceral Myopathy, Familial

Prostate Angiosarcoma

Prostatic Hemangiosarcoma

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy	CNM1
Centronuclear Myopathy 1	Ad-Cnm
Myopathy, Centronuclear, Autosomal Dominant	Myotubular Myopathy, Autosomal Dominant
Centronuclear Myopathy, Autosomal, Modifier Of	Autosomal Dominant Myotubular Myopathy
Dnm2-Related Centronuclear Myopathy	Centronuclear Myopathy Autosomal Dominant
Myopathies, Structural, Congenital	Myopathy, Centronuclear, Type 1

Lipoma Of Spermatic Cord

Spermatic Cord Lipoma

Paratesticular Lipoma

Colon Leiomyosarcoma

Colonic Leiomyosarcoma

Hypotonia

Limb-Girdle Muscular Dystrophy

Lgmd	Limb Girdle Muscular Dystrophy
Muscular Dystrophies, Limb-Girdle	Erb'S Muscular Dystrophy
Leyden-Mbius Muscular Dystrophy	Limb-Girdle Syndrome
Myopathic Limb-Girdle Syndrome	Limb Girdle
Muscular Dystrophy Limb-Girdle	Dystrophy, Muscular, Limb-Girdle
Lgmd - [Limb-Girdle Muscular Dystrophy]	Limb Girdle Muscle Dystrophy
Limb-Girdle Myopathy

Hyaline Body Myopathy

Myosin Storage Myopathy	Autosomal Dominant Hyaline Body Myopathy
Myopathy, Myosin Storage

Prostate Leiomyoma

Prostatic Leiomyoma

Multiminicore Disease

Multiminicore Myopathy	Mmd
Minicore Disease	Minicore Myopathy
Multi-Core Congenital Myopathy	Multi-Core Disease
Multi-Minicore Disease	Multicore Disease
Multicore Myopathy	Minicore Myopathy With External Ophthalmoplegia

Breast Myoepithelial Carcinoma

Central Core Disease Of Muscle

Central Core Disease	Central Core Myopathy
CCD	Cco
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber	Myopathy, Central Core
Shy-Magee Syndrome	Muscle Core Disease
Muscular Central Core Disease	Myopathy, Central Fibrillar
Shy'S Disease	Moderate Multiminicore Disease With Hand Involvement

Amelogenesis Imperfecta, Type Ie

Aih1	Amelogenesis Imperfecta Type 1e
AI1E	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1
Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth	Enamel Hypoplasia, X-Linked
Amelogenesis Imperfecta Type Ie	Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1
Enamel Hypoplasia X-Linked	Amelogenesis Imperfecta, X-Linked 1
Amelogenesis Imperfecta, Type 1e	Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth
X-Linked Amelogenesis Imperfecta 1	X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1
X-Linked Enamel Hypoplasia	Amelogenesis Imperfecta X-Linked 1
Amelogenesis Imperfecta 1e	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e
Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth	Xai
X-Linked Amelogenesis Imperfecta	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome	Arthropathy-Camptodactyly Syndrome
Pericarditis-Arthropathy-Camptodactyly Syndrome	Xyy Syndrome
Pac Syndrome	Cacp Syndrome
CACP	Fibrosing Serositis, Familial
Camptodactyly-Arthropathy-Pericarditis Syndrome	Cap Syndrome
47, Xyy Syndrome	47,Xyy Syndrome
Double Y Syndrome	Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Hypertrophic Synovitis, Congenital Familial	Congenital Familial Hypertrophic Synovitis
Xyy Karyotype	Y Disomy
Yy Syndrome	Familial Fibrosing Serositis
Disomy Y	Double Y
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome	Arthropathy Camptodactyly Syndrome
Camptodactyly Arthropathy Pericarditis Syndrome	Pericarditis Arthropathy Camptodactyly Syndrome
Jacob'S Syndrome	47,Xyy
Cdags Syndrome

Cardiomyopathy, Dilated, 2a

Dilated Cardiomyopathy 2a	CMD2A
Cardiomyopathy, Dilated, Autosomal Recessive	Cardiomyopathy, Congestive, Autosomal Recessive
Cardiomyopathy, Dilated 2a	Cardiomyopathy, Dilated, Type 2a
Autosomal Recessive Dilated Cardiomyopathy

Nemaline Myopathy 2

NEM2	Nemaline Myopathy 2, Autosomal Recessive
Nemaline Myopathy, Type 2	Neb-Related Nemaline Myopathy
Myopathy, Nemaline, Type 2

Cardiomyopathy, Dilated, 1ff

Dilated Cardiomyopathy 1ff	CMD1FF
Cardiomyopathy, Dilated 1ff	Cardiomyopathy, Dilated, Type 1ff

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Scapuloperoneal Myopathy

Benign Fibrous Mesothelioma

Fibrous Mesothelioma, Benign	Localized Benign Fibrous Mesothelioma
Solitary Fibrous Tumor, Pleural	Pleural Solitary Fibrous Tumor
Solitary Fibrous Tumor

Hydrops Of Gallbladder

Gallbladder Hydrops

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy	Fshd
Landouzy-Dejerine Muscular Dystrophy	Muscular Dystrophy, Facioscapulohumeral
FSHD1	Fshd1a
Muscular Dystrophy, Facioscapulohumeral, Type 1a	Facioscapulohumeral Muscular Dystrophy Type 1a
Fsh Muscular Dystrophy	Facioscapulohumeral Muscular Dystrophy 1a
Facioscapulohumeral Atrophy	Facioscapulohumeral Myopathy
Muscular Dystrophy, Facioscapulohumeral, Type 1	Facioscapulohumeral Muscular Dystrophy Type 1
Landouzy Dejerine Muscular Dystrophy	Muscular Dystrophy, Landouzy-Dejerine
Fshmd1a	Facio-Scapulo-Humeral Dystrophy
Facioscapulohumeral Type Progressive Muscular Dystrophy	Facioscapuloperoneal Muscular Dystrophy
Facioscapulohumeral Dystrophy	Fsh Dystrophy
Landouzy-Dejerine Dystrophy	Landouzy-Dejerine Myopathy
Fmd	Facioscapulohumeral Muscular Dystrophy-1a
Muscular Dystrophy Facioscapulohumeral	Dystrophy, Muscular, Facioscapulohumeral
Dystrophy, Muscular, Facioscapulohumeral, Type 1	Landouzy-Dejerine Disease
Landouzy-Déjerine Atrophy	Facioscapulohumeral Muscle Dystrophy
Fmd - [Facioscapulohumeral Muscular Dystrophy]	Fsh - [Facioscapulohumeral Muscular Dystrophy]
Fshd - [Facioscapulohumeral Muscular Dystrophy]	Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
Landouzy-Déjérine Muscular Dystrophy

Myopathy, Distal, 1

Laing Distal Myopathy	Laing Early-Onset Distal Myopathy
MPD1	Distal Myopathy 1
Myopathy, Distal, Early-Onset, Autosomal Dominant	Distal Myopathy Type 1
Gowers Disease	Myopathy, Late Distal Hereditary
Myopathy Distal, Type 1	Myopathy Distal Early-Onset Autosomal Dominant
Myopathy Late Distal Hereditary	Myopathy, Distal, Type 1
Welander Distal Myopathy

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Gastric Liposarcoma

Liposarcoma Of The Stomach

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Berdon Syndrome
MMIHS	Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Megacystis, Microcolon, Hypoperistalsis Syndrome	Visceral Myopathy
Mmih Syndrome	Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome
MMIHS1	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih
Mmhs

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Primary Biliary Cholangitis

Primary Biliary Cirrhosis	Biliary Liver Cirrhosis
Chronic Nonsuppurative Destructive Cholangitis	Familial Primary Biliary Cirrhosis
Pbc	Hanot Syndrome
Cholestatic Cirrhosis	Biliary Cirrhosis Primary
Liver Cirrhosis, Biliary	Hanot'S Cirrhosis
Biliary Cirrhosis	Pericholangiolic Biliary Cirrhosis
Tannhauser-Magendantz Syndrome	Hanot-Rossle Syndrome
Hypertrophic Cirrhosis	Todd Cirrhosis
Hanot Cirrhosis	Charcot Cirrhosis
Mahon-Tannhauser Syndrome	Toxic Cirrhosis
Hypertrophic Biliary Cirrhosis	Monolobular Cirrhosis
Unilobar Cirrhosis	Xanthomatous Biliary Cirrhosis

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00213	ACTA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ACTA1	VGNC	VGNC:25573
Canis familiaris	ACTA1	VGNC	VGNC:37538
Rattus norvegicus	ACTA1	RGD	RGD:2025
Mus musculus	ACTA1	MGD	MGI:87902
Macaca mulatta	ACTA1	VGNC	VGNC:69387
Felis catus	ACTA1	VGNC	VGNC:59541