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)
End	60,281,400 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	8,239,041 bp
RNA expression pattern
	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
	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
	767
	12319
	ENSG00000178538
	ENSMUSG00000041261
	P35219
	P28651
	NM_004056; NM_001321837; NM_001321838; NM_001321839
	NM_007592
	NP_001308766; NP_001308767; NP_001308768; NP_004047
	NP_031618
	Wikidata
View/Edit Human	View/Edit Mouse

Carbonic anhydrase-related protein is a protein that in humans is encoded by the CA8 gene. The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes. 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.