Recombinant Human Carbonic anhydrase-related protein (CA8)

Uniprot Id

P35219

Target Species

Human

Target Name

CA8

Target Full Name

Carbonic anhydrase-related protein

Target Function

Does not have a carbonic anhydrase catalytic activity.

Target Involvement

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3)

Target Protein Families

Alpha-carbonic anhydrase family

Target Research Area

Cancer

Target Synonyms

CA VIII; CA-VIII; Ca8; CAH8_HUMAN; CALS; Carbonic anhydrase related protein; Carbonic anhydrase VIII; Carbonic anhydrase-related protein; CARP; MGC120502; MGC99509

Target Background

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.