CA14
Description
The CA14 (carbonic anhydrase 14) is a protein-coding gene located on chromosome 1.
Carbonic anhydrase 14 (CA14) is an enzyme encoded by the CA14 gene in humans. CA14 is part of a large family of zinc metalloenzymes called carbonic anhydrases (CAs) that catalyze the reversible hydration of carbon dioxide. This process is crucial for various biological functions, including respiration, calcification, acid-base balance, bone resorption, and the production of fluids like aqueous humor, cerebrospinal fluid, saliva, and gastric acid. CA14 is a type I membrane protein, similar to CA XII, but exhibits different tissue-specific expression patterns, suggesting distinct physiological roles. In melanocytic cells, CA14 gene expression can be regulated by MITF.
CA14 is also known as CAXiV.
Associated Diseases
- retinitis pigmentosa
- X-linked retinal dysplasia
- severe early-childhood-onset retinal dystrophy
- reticular dystrophy of the retinal pigment epithelium
- age related macular degeneration 4
- age related macular degeneration 7
- age related macular degeneration 11
- X-linked retinoschisis
- Stargardt disease 4
- late-onset retinal degeneration
- progressive bifocal chorioretinal atrophy
- Leber congenital amaurosis
