CA9

Chr 9

carbonic anhydrase 9

Also known as: CAIX, MN

NCBI Gene: 768 ENSG00000107159 UniProt: Q16790 OMIM: 603179

CA9 encodes a transmembrane carbonic anhydrase that catalyzes the interconversion between carbon dioxide and water and the dissociated ions of carbonic acid (bicarbonate and hydrogen ions). Mutations cause autosomal recessive cerebral ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4), characterized by early-onset cerebellar dysfunction and intellectual disability. This gene is highly tolerant to loss-of-function variants in the general population (low constraint), which is consistent with its autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]

OMIM ResearchGenerating clinical summary…

Active trials

187

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.09

LOEUF

Multiple*

Mechanism· predicted