DISEASES

Disease-gene associations mined from literature

Literature associating CA4 and retinitis pigmentosa

CA4 [ENSP00000300900]

Carbonate dehydratase IV; 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; Belongs to the alpha-carbonic anhydrase family.

Synonyms:  CA4,  CA4p,  hCA4,  B4DQA4,  K7EKY5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM