Aliases for CA4 Gene
External Ids for CA4 Gene
Previous HGNC Symbols for CA4 Gene
Previous GeneCards Identifiers for CA4 Gene
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. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
GeneCards Summary for CA4 Gene
CA4 (Carbonic Anhydrase IV) is a Protein Coding gene. Diseases associated with CA4 include retinitis pigmentosa 17 and ca4-related retinitis pigmentosa. Among its related pathways are Metabolism and Proximal tubule bicarbonate reclamation. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA14.
UniProtKB/Swiss-Prot for CA4 Gene
Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid.
Carbonic anhydrases are zinc-containing enzymes belonging to the lyases family, and are primarily responsible for catalyzing the reversible hydration of carbon dioxide to form bicarbonate (HCO3-) and hydrogen (H+) ions. There are several different carbonic anhydrase isoforms; these can be broadly grouped into cytosolic (CA I, CA II, CA III, CA VII, CA XIII), mitochondrial (CA VA, CA VB), secreted (CA VI) and membrane-associated (CA IV, CA IX, CA XII, CA XIV) carbonic anhydrases. The functions of the remaining carbonic anhydrases are yet to be elucidated. Expression of the membrane-bound carbonic anhydrase, CA IX, has been reported in hypoxic tumors where its activity is linked to promoting survival of tumor cells and aiding cancer progression. This is thought to occur through the carbonic anhyrase-mediated production of bicarbonate ions, which neutralizes the abnormally acidic pH of the extracellular environment induced during hypoxia. Furthermore, as CA IX is a hypoxia- and HIF-1-inducible enzyme, its expression can be used as a biomarker for hypoxic tumors.