CA8 gene

carbonic anhydrase 8

The information on this page was automatically extracted from online scientific databases.

From NCBI 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. 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]

From UniProt:

Does not have a carbonic anhydrase catalytic activity.

From NCBI Gene:

  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3

From UniProt:

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3): A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. [MIM:613227]

Cytogenetic Location: 8q12.1, which is the long (q) arm of chromosome 8 at position 12.1

Molecular Location: base pairs 60,185,420 to 60,281,423 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q12.1, which is the long (q) arm of chromosome 8 at position 12.1
  • CA-RP
  • CA-VIII
  • CALS
  • CAMRQ3
  • CARP