AAI08930.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
32,973 Da
NCBI Official Full Name
Carbonic anhydrase VIII
NCBI Official Synonym Full Names
carbonic anhydrase 8
NCBI Official Synonym Symbols
CALS; CARP; CA-RP; CAMRQ3; CA-VIII [Similar Products]
NCBI Protein Information
carbonic anhydrase-related protein
UniProt Protein Name
Carbonic anhydrase-related protein
UniProt Synonym Protein Names
Carbonic anhydrase VIII; CA-VIII
UniProt Synonym Gene Names
NCBI Summary for CA8
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]
UniProt Comments for CA8
CA8: Does not have a carbonic anhydrase catalytic activity. Defects in CA8 are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3). CMARQ3 is a congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mild mental retardation. Belongs to the alpha-carbonic anhydrase family.
Protein type: Energy Metabolism - nitrogen; Lyase
Chromosomal Location of Human Ortholog: 8q12.1
Molecular Function: protein binding
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
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Products associated with anti-CA8 antibody
Pathways associated with anti-CA8 antibody
Diseases associated with anti-CA8 antibody
Organs/Tissues associated with anti-CA8 antibody
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