Orphanet: Search a disease

Search for a gene

* (*) mandatory field

CA4 - carbonic anhydrase 4

  • Synonym(s) : CAIV, Car4
  • Previous symbols and names : RP17, carbonic anhydrase IV, retinitis pigmentosa 17 (autosomal dominant)
  • Type : gene with protein product
  • Chromosomal location : 17q23.1
  • OMIM: 114760
  • HGNC: 1375
  • UniProtKB: P22748
  • Genatlas: CA4
  • Ensembl: ENSG00000167434
  • IUPHAR-DB: 2599
  • Reactome: P22748
  • LOVD: CA4

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.