CA8 - carbonic anhydrase 8 Gene

Homo sapiens

Also known as CALS; CARP; CA-RP; CAMRQ3; CA-VIII

Gene ID: 767 | Gene type: protein coding

About CA8

Cytogenetic location: 8q12.1 Genomic coordinates (GRCh38): 8:60,185,412-60,281,400 (from NCBI)

This gene has 4 transcripts (splice variants), 222 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 2.4), placenta (RPKM 2.4) and 20 other tissues.

Summary

The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known Carbonic Anhydrase genes. However, the gene product lacks Carbonic Anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a Carbonic Anhydrase designation based on clear sequence identity to other members of the Carbonic Anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

CA8 Products(5)

mRNA	Protein	Name
NM_001321837.2	NP_001308766.1	carbonic anhydrase-related protein isoform a
NM_001321838.2	NP_001308767.1	carbonic anhydrase-related protein isoform b
NM_001321839.2	NP_001308768.1	carbonic anhydrase-related protein isoform c
NM_001412131.1	NP_001399060.1	carbonic anhydrase-related protein isoform d
NM_004056.6	NP_004047.3	carbonic anhydrase-related protein isoform a

CA8 Protein Structure

Carb_anhydrase

0
100
200
290 a.a.

Protein Preferred Names

Protein Names

carbonic anhydrase-related protein

CA-related protein

Recombinant CA8 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7723	Carbonic Anhydrase 8 Protein, Human (His)	P35219 (A2-Q290)	≥95%

Related Diseases

Diseases

Alias

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 3	Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 3
CAMRQ3	CMARQ3
Ataxia, Cerebellar, And Mental Retardation With/Without Quadrupedal Locomotion, Type 3

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome	CAMRQ1
Des	Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1
Cerebellar Hypoplasia, Vldlr-Associated	Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome	Uner Tan Syndrome
Vldlr Cerebellar Hypoplasia	Vldlrch
Vldlr-Associated Cerebellar Hypoplasia	Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive	Camrq
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1	Cerebellar Disorder, Nonprogressive, With Intellectual Disability
Cerebellar Hypoplasia, Vldlr Associated	Autosomal Recessive Cerebellar Ataxia With Mental Retardation
Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification	Cerebellar Disorder, Nonprogressive, With Mental Retardation
Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion	Chmrq1
Des-Vldlr	Dysequilibrium Syndrome-Vldlr
Vldlr-Ch	Camrq Syndrome
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome	Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome
Uts	Cerebellar Hypoplasia Vldlr-Associated
Dialysis Disequilibrium Syndrome

Autosomal Recessive Congenital Cerebellar Ataxia

Spinocerebellar Ataxia 29

Spinocerebellar Ataxia Type 29	SCA29
Cnpca	Cerebellar Vermis Aplasia
Aplasia Of Cerebellar Vermis	Acv
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant	Spinocerebellar Ataxia 29, Congenital Nonprogressive
Congenital Nonprogressive Spinocerebellar Ataxia	Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia
Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive	Familial Aplasia Of The Vermis

Paraneoplastic Cerebellar Degeneration

Pcd	Paraneoplastic Cerebellar Ataxia
Rapidely Progressive Cerebellar Syndrome	Subacute Cerebellar Degeneration

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome	Duane'S Syndrome
Duane Syndrome	Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome	Duane Anomaly, Isolated
Ocular Retraction Syndrome	Drs
Durs

Sulfonamide Allergy

Machado-Joseph Disease

SCA3	MJD
Spinocerebellar Ataxia 3	Azorean Disease
Spinocerebellar Ataxia Type 3	Spinocerebellar Atrophy
Azorean Neurologic Disease	Spinopontine Atrophy
Nigrospinodentatal Degeneration	Spinocerebellar Atrophy Iii
Spinocerebellar Atrophy Type 3	Azorean Ataxia
Azorean Disease Of The Nervous System	Machado Disease
Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia	Disease, Machado-Joseph
Ataxia, Spinocerebellar

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Tukel Syndrome

Cfeom-U	Congenital Fibrosis Of The Extraocular Muscles 4
Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies	Fibrosis Of Extraocular Muscles, Congenital, 4
Cfeom4	Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies
Congenital Fibrosis Of The Extraocular Muscles

Barber-Say Syndrome

Hypertrichosis, Atrophic Skin, Ectropion, And Macrostomia	Barber Say Syndrome
BBRSAY	Bss
Hypertrichosis Atrophic Skin Ectropion Macrostomia	Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome

Spinocerebellar Ataxia, X-Linked 1

X-Linked Progressive Cerebellar Ataxia	SCAX1
Opcax	X-Linked Spinocerebellar Ataxia 1
Olivopontocerebellar Atrophy, X-Linked	Opca, X-Linked
Olivopontocerebellar Atrophy X-Linked	Opca X-Linked
Ataxia, Spinocerebellar, X-Linked Type 1

Cerebral Palsy, Ataxic, Autosomal Recessive

Ataxic Cerebral Palsy	Acp
Hypotonic Cerebral Palsy	Cerebral Palsy Ataxic
Cerebral Palsy, Atonic	Congenital Cerebral Palsy With Ataxia
Ataxic Cerebral Paralysis	Ataxia With Cerebral Palsy
Cerebral Infantile Diataxia

Gillespie Syndrome

GLSP	Aniridia, Cerebellar Ataxia And Mental Deficiency
Aniridia Cerebellar Ataxia Mental Deficiency	Aniridia, Cerebellar Ataxia, And Mental Retardation
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia-Cerebellar Ataxia-Intellectual Disability
Aniridia-Cerebellar Ataxia-Mental Deficiency	Partial Aniridia-Cerebellar Ataxia-Oligophrenia
Aniridia, Cerebellar Ataxia, And Intellectual Disability

Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7	Cenani Syndactylism
Cenani-Lenz Syndactyly	CLSS
Syndactyly Cenani Lenz Type	Cenani-Lenz Syndrome
Syndactyly, Type Vii	Cenani-Lenz Type Syndactyly
Cenani Syndactyly	Syndactyly Type Vii

Intracranial Hypertension, Idiopathic

Pseudotumor Cerebri	Idiopathic Intracranial Hypertension
Benign Intracranial Hypertension	Iih
Benign Intracran. Hypt.

X-Linked Cerebellar Ataxia

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01775	CA8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W010221	Phenyltrimethylammonium hydroxide		≥95.0%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CA8	VGNC	VGNC:26658
Macaca mulatta	CA8	VGNC	VGNC:70494
Felis catus	CA8	VGNC	VGNC:60279
Mus musculus	CA8	MGD	MGI:88253
Rattus norvegicus	CA8	RGD	RGD:1304709
Canis familiaris	CA8	VGNC	VGNC:38616
Others	CA8	NCBI

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