ASAH1 - N-acylsphingosine amidohydrolase 1 Gene

Homo sapiens

Also known as AC; PHP; ASAH; PHP32; ACDase; SMAPME

Gene ID: 427 | Gene type: protein coding

About ASAH1

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:18,055,992-18,084,961 (from NCBI)

This gene has 68 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 6 phenotypes. Broad expression in thyroid (RPKM 225.8), heart (RPKM 191.4) and 24 other tissues.

Summary

This gene encodes a member of the acid Ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal Enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This Enzyme is overexpressed in multiple human cancers and may play a role in Cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]

ASAH1 Products(4)

mRNA	Protein	Name
NM_001127505.3	NP_001120977.1	acid ceramidase isoform c
NM_001363743.2	NP_001350672.1	acid ceramidase isoform d
NM_004315.6	NP_004306.3	acid ceramidase isoform b
NM_177924.5	NP_808592.2	acid ceramidase isoform a preproprotein

ASAH1 Protein Structure

NAAA-beta

CBAH

0
100
200
300
395 a.a.

Protein Preferred Names

Protein Names

acid ceramidase

N-acylethanolamine hydrolase ASAH1

Recombinant ASAH1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71541	ASAH1 Protein, Human (His-SUMO)	Q13510 (22Q-395W)	≥95%

Related Diseases

Diseases

Alias

Farber Lipogranulomatosis

Farber Disease	Acid Ceramidase Deficiency
Ceramidase Deficiency	Ac Deficiency
N-Laurylsphingosine Deacylase Deficiency	Farber'S Disease
FRBRL	Farber'S Lipogranulomatosis
Acylsphingosine Deacylase Deficiency	Farber-Uzman Syndrome
Acy

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

Jankovic-Rivera Syndrome	SMAPME
Sma-Pme	Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome	Hereditary Myoclonus With Progressive Distal Muscular Atrophy
Jankovic Rivera Syndrome	Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy
Myoclonus Hereditary Progressive Distal Muscular Atrophy	Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

Asah1-Related Disorders

Keloid Formation

KLDF

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Lipogranulomatosis

Erdheim-Chester Disease

Lipogranuloma

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

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]

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Gaucher Disease, Type Iiic

Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Gaucher-Like Disease
GD3C	Gaucher'S Disease Type Iiic
Cardiovascular Gaucher Disease	Gaucher Disease Type 3c
Gaucher Disease 3c	Pseudo-Gaucher Disease

Gaucher Disease, Type Iii

Gaucher Disease, Subacute Neuronopathic Type	Gd Iii
Gaucher Disease, Chronic Neuronopathic Type	Gaucher Disease, Juvenile And Adult, Cerebral
Gaucher Disease Type 3	GD3
Gaucher'S Disease Type Iii	Gaucher Disease Type Iii
Gd 3	Cerebral Juvenile And Adult Form Of Gaucher Disease
Chronic Neuronopathic Gaucher Disease	Gaucher Disease 3
Cerebral, Juvenile And Adult, Gaucher Disease	Gaucher Disease Chronic Neuronopathic Type
Gaucher Disease Type Ii	Subacute Neuronopathic Gaucher Disease
Type 3 Gaucher Disease	Gaucher Disease, Type 3
Gaucher Disease, Type 2

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Krabbe Disease

Globoid Cell Leukodystrophy	Galactosylceramide Beta-Galactosidase Deficiency
Galc Deficiency	Galactocerebrosidase Deficiency
GLD	Globoid Cell Leukoencephalopathy
Diffuse Globoid Body Sclerosis	Gcl
Leukodystrophy, Globoid Cell	Krabbe'S Leukodystrophy
Krabbe Leukodystrophy	KRB
Beta Galactocerebrosidase Deficiency	Krabbe'S Disease
Galactosylceramidase Deficiency Disease	Galactosylceramide Lipidosis
Galactosylcerebrosidase Deficiency	Galactosylsphingosine Lipidosis
Psychosine Lipidosis	Galactosylceramidase Deficiency
Infantile Globoid Cell Leukodystrophy	Krabbe Brain Sclerosis

Charcot-Marie-Tooth Disease, Axonal, Type 2v

CMT2V	Charcot-Marie-Tooth Disease Axonal Type 2v
Charcot-Marie-Tooth Neuropathy, Type 2v	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v
Charcot-Marie-Tooth Neuropathy Type 2v	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Naglu Mutation
Hereditary Adult-Onset Painful Axonal Polyneuropathy	Charcot-Marie-Tooth Disease 2v

Gaucher Disease, Perinatal Lethal

Gaucher Disease Perinatal Lethal	Gaucher Disease, Collodion Type
Gaucher'S Disease Perinatal Lethal	Fetal Gaucher Disease
Perinatal Lethal Gaucher Disease	Gaucher Disease Collodion Type
Gaucher Disease, Perinatal-Lethal Form	GDPL

Gaucher Disease, Type I

Glucocerebrosidase Deficiency	Acid Beta-Glucosidase Deficiency
Gba Deficiency	GD1
Gd I	Gaucher Disease, Noncerebral Juvenile
Gaucher Disease Type 1	Gaucher Disease Type I
Gaucher'S Disease Type I	Gaucher Disease
Gd 1	Non-Cerebral Juvenile Gaucher Disease
GD	Gaucher Disease 1
Adult Non-Neuronopathic Gaucher Disease	Noncerebral Juvenile Gaucher Disease
Type 1 Gaucher Disease	Gaucher Disease, Type 1

Sandhoff Disease

Total Hexosaminidase Deficiency	Hexosaminidases A And B Deficiency
Sandhoff Disease, Infantile, Juvenile, And Adult Forms	Beta-Hexosaminidase-Beta-Subunit Deficiency
Gm2 Gangliosidosis, Type 2	Hexosaminidase A And B Deficiency Disease
Sandhoff-Jatzkewitz-Pilz Disease	Gm2 Gangliosidosis, Type Ii
Sandhoff Disease, Infantile Form	Sandhoff Disease, Adult Form
Sandhoff Disease, Juvenile Form	Gm2-Gangliosidosis, Type Ii
Sandhoff Jatzkewitz Disease	Type Ii Gm2 Gangliosidosis
Gm2 Gangliosidosis, 0 Variant	Gm2 Gangliosidosis 0 Variant
Hexosaminidases A And B Deficiency, Infantile Form	Infantile Gm2 Gangliosidosis 0 Variant
Adult Gm2 Gangliosidosis 0 Variant	Hexosaminidases A And B Deficiency, Adult Form
Hexosaminidases A And B Deficiency, Juvenile Form	Juvenile Gm2 Gangliosidosis 0 Variant
Gm2-Gangliosidosis 2	GM2G2
Hexosaminidase A And B Deficiency	Sd

Kanzaki Disease

Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Naga Deficiency Type 2
Schindler Disease, Type Ii	Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
Schindler Disease Type 2	Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset	Naga Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset	KANZD
Naga Deficiency Type Ii	Schindler Disease Type Ii

Malignant Pineal Area Germ Cell Neoplasm

Pineal Germ Cell Tumor	Malignant Pineal Parenchymal Germ Cell Tumor
Pineal Region Germ Cell Tumor	Pineal Cell Tumor
Pineal Cell Tumour	Pineal Region Germinoma
Malignant Pineal Region Germ Cell Tumor	Pineal Germinoma

Sphingolipidosis

Sphingolipidoses

Gm2 Gangliosidosis

Gangliosidosis Gm2

Gangliosidoses, Gm2

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency	Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
Acid Sphingomyelinase Deficiency, Neurovisceral Type	Asmd, Neurovisceral Type
Infantile Neurovisceral Acid Sphingomyelinase Deficiency	Infantile Neurovisceral Asmd
Npd-A	Niemann-Pick Disease A
NPDA	Classical Niemann-Pick Disease
Niemann-Pick Disease Acute Neuronopathic Form	Niemann-Pick Disease Acute Neurovisceral Form
Niemann-Pick Disease Classical Infantile Form	Niemann-Pick Disease Intermediate Protracted Neurovisceral
Niemann-Pick Disease Neuronopathic Type	Niemann-Pick Disease Type I
Npa	Niemann-Pick Diseases

Cerebral Arteritis

Brain Endarteritis	Cerebral Or Cerebrospinal Endarteritis
Brain Arteritis

Schindler Disease

Alpha-N-Acetylgalactosaminidase Deficiency	Naga Deficiency
Alpha-Galactosidase B Deficiency	Alpha-Galnac Deficiency, Schindler Type
Alpha-Naga Deficiency	Angiokeratoma Corporis Diffusum-Glycopeptiduria
Galb Deficiency	Kanzaki Disease
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum	Neuroaxonal Dystrophy, Schindler Type
Neuronal Axonal Dystrophy, Schindler Type	Schindler Disease, Type I
Schindler Disease, Type Ii

Gm2-Gangliosidosis, Ab Variant

Hexosaminidase Activator Deficiency	Tay-Sachs Disease, Ab Variant
Gm2 Gangliosidosis, Ab Variant	Gm2 Activator Deficiency
Tay-Sachs Disease, Variant Ab	Tay-Sachs Disease Ab Variant
Ab Variant Gm2-Gangliosidosis	Tay-Sachs Variant Ab
Ab Variant	Activator Deficiency/Gm2 Gangliosidosis
Activator-Deficient Tay-Sachs Disease	Gm2 Activator Deficiency Disease
Gm2 Gangliosidosis, Type Ab	Gm2-Gangliosidosis Ab
GM2GAB	Gm2-Gangliosidosis Ab Variant
Gangliosidosis Gm2 Ab Variant	Gm2-Gangliosidosis, Variant Ab

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Intracranial Berry Aneurysm

Familial Aneurysmal Subarachnoid Hemorrhage	Familial Berry Aneurysm
Familial Intracranial Saccular Aneurysm	Saccular Cerebral Aneurysm
Aneurysm, Intracranial Berry	Aneurysmal Subarachnoid Hemorrhage
Aneurysm, Intracranial Berry, 1

Metachromatic Leukodystrophy

Arylsulfatase A Deficiency	MLD
Arsa Deficiency	Sulfatide Lipidosis
Metachromatic Leukoencephalopathy	Cerebral Sclerosis, Diffuse, Metachromatic Form
Cerebroside Sulfatase Deficiency	Leukodystrophy, Metachromatic
Pseudoarylsulfatase A Deficiency	Leukodystrophy Metachromatic
Sulfatidosis	Metachromatic Leukodystrophy, Late Infantile
Metachromatic Leukodystrophy Variant	Deficiency Of Cerebroside-Sulfatase
Scholz Cerebral Sclerosis	Sulfatide Lipoidosis
Cerebral Sclerosis Diffuse Metachromatic Form	Arylsulfatase A Deficiency Disease
Cerebroside Sulphatase Deficiency Disease	Greenfield Disease
Metachromatic Leukodystrophy, Adult	Metachromatic Leukodystrophy, Juvenile
Leukodystrophy Metachromatic Adult	Leukodystrophy Metachromatic Juvenile
Leukodystrophy Metachromatic Late Infantile	Metachromatic Leukodystrophy, Adult Type
Metachromatic Leukodystrophy, Juvenile Type	Metachromatic Leukodystrophy, Infant
Greenfield'S Disease

Gaucher'S Disease

Gaucher Disease	Kerasin Thesaurismosis
Glucocerebrosidase Deficiency	Glucosylceramidase Deficiency
Cerebroside Lipidosis Syndrome	Acid Beta-Glucosidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency	Acute Cerebral Gaucher Disease
Gaucher Splenomegaly	Glucocerebrosidosis
Glucosyl Cerebroside Lipidosis	Kerasin Lipoidosis
Lipoid Histiocytosis	Glocucerebrosidase Deficiency
Sphingolipidosis 1	Gaucher Syndrome
Gauchers Disease	Gd
Glucosylceramide Lipidosis	Kerasin Histiocytosis
Gaucher Disease, Type 1	Gaucher Disease, Type 2

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Gangliosidosis

Gangliosidoses

Progressive Myoclonus Epilepsy 4

Action Myoclonus-Renal Failure Syndrome	Amrf
Epm4	Myoclonus-Nephropathy Syndrome

Tay-Sachs Disease

Hexosaminidase A Deficiency	TSD
Hexa Deficiency	Gm2 Gangliosidosis, Type 1
Hexosaminidase Alpha-Subunit Deficiency	Gm2-Gangliosidosis, Several Forms
Gm2-Gangliosidosis, B, B1, Ab Variant	B Variant Gm2 Gangliosidosis
Sphingolipidosis, Tay-Sachs	Gm2-Gangliosidosis, Type I
B Variant Gm2-Gangliosidosis	Hex A Pseudodeficiency
Hexa Disorders	Beta-Hexosaminidase A Deficiency
Gm2 Gangliosidosis, Type I	Gangliosidosis Gm2 , Type 1
Gm2 Gangliosidosis, B, B1 Variant	Gm2-Gangliosidosis 1
GM2G1	Gm2-Gangliosidosis B Variant
Tay-Sachs Disease Pseudo-Ab Variant	Tay-Sachs Disease Variant B1
Gangliosidoses, Gm2

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-141866	Acid Ceramidase-IN-1		99.36%	Unkown
HY-RS01053	ASAH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-158783	SACLAC		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ASAH1	VGNC	VGNC:68326
Macaca mulatta	ASAH1	VGNC	VGNC:70028
Mus musculus	ASAH1	MGD	MGI:1277124
Canis familiaris	ASAH1	VGNC	VGNC:38152
Rattus norvegicus	ASAH1	RGD	RGD:621568
Bos taurus	ASAH1	VGNC	VGNC:26183
Others	ASAH1	NCBI