Gene: CA4
Alternate names for this Gene: CAIV|Car4|RP17
Gene Summary: 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.
Gene is located in Chromosome: 17
Location in Chromosome : 17q23.1
Description of this Gene: carbonic anhydrase 4
Type of Gene: protein-coding
rs104894559 in
CA4 gene and
Retinitis Pigmentosa
PMID 15090652 2004 Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
PMID 15563508 2005 Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
rs104894559 in
CA4 gene and
Retinitis Pigmentosa 17
PMID 20450258 2010 Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
PMID 15563508 2005 Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
PMID 17652713 2007 Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.