2W2J
767
12319
ENSG00000178538
ENSMUSG00000041261
P35219
P28651
NM_004056NM_001321837NM_001321838NM_001321839
NM_007592
NP_001308766NP_001308767NP_001308768NP_004047
NP_031618
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.
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.
CA8 has been shown to interact with ITPR1.
This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.
