CA8

CA8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2W2J
Identifiers
Aliases	CA8, CA-VIII, CALS, CAMRQ3, CARP, CA-RP, carbonic anhydrase 8
External IDs	OMIM: 114815; MGI: 88253; HomoloGene: 20861; GeneCards: CA8; OMA:CA8 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q12.1 Start 60,185,412 bp[1] End 60,281,400 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 A1|4 3.53 cM Start 8,143,362 bp[2] End 8,239,041 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum gonad testicle cerebellar vermis right testis left testis anterior pituitary caudate nucleus islet of Langerhans amygdala Top expressed in lobe of cerebellum cerebellar vermis crypt of lieberkuhn of small intestine Paneth cell migratory enteric neural crest cell right lung left lung lobe right lung lobe deep cerebellar nuclei epithelium of lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function carbonate dehydratase activity zinc ion binding protein binding metal ion binding carbonic anhydrase Cellular component cytoplasm Biological process phosphatidylinositol-mediated signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 767 12319 Ensembl ENSG00000178538 ENSMUSG00000041261 UniProt P35219 P28651 RefSeq (mRNA) NM_004056 NM_001321837 NM_001321838 NM_001321839 NM_007592 RefSeq (protein) NP_001308766 NP_001308767 NP_001308768 NP_004047 NP_031618 Location (UCSC) Chr 8: 60.19 – 60.28 Mb Chr 4: 8.14 – 8.24 Mb PubMed search [3] [4]
Wikidata
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Carbonic anhydrase-related protein is a protein that in humans is encoded by the CA8 gene.^[5][6] The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes.^[7] A rare, autosomal recessive form of cerebellar ataxia known as "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" (CAMRQ3) is caused by mutations in the CA8 gene.^[7][8]

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.^[6]

CA8 has been shown to interact with ITPR1.^[9]

• Human CA8 genome location and CA8 gene details page in the UCSC Genome Browser.
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Carbonic anhydrase-related protein

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

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