CA8 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CA8 wild-type allele is located in the vicinity of 8q12.1 and is approximately 96 kb in length. This allele, which encodes carbonic anhydrase-related protein, may be involved in bone homeostasis and cerebellar development. Mutations in the gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis and overexpression of the gene is associated with osteosarcoma.

**Synonyms:** - CA VIII - CA-RP - CA-Related Protein Gene - CA-VIII - CALS - CAMRQ3 - CARP - Carbonic Anhydrase 8 wt Allele - Carbonic Anhydrase-Like Sequence Gene - Carbonic Anhydrase-Related Polypeptide Gene