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The information on this page was automatically extracted from online scientific databases.

What is the official name of the CA4 gene?

The official name of this gene is “carbonic anhydrase IV.”

CA4 is the gene's official symbol. The CA4 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CA4 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the CA4 gene related to health conditions?

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the CA4 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CA4 gene's known or predicted involvement in human disease.

Retinitis pigmentosa 17 (RP17): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by mutations affecting the gene represented in this entry. Defective acid overload removal from retina and retinal epithelium, due to mutant CA4, is responsible for photoreceptor degeneration, indicating that impaired pH homeostasis is the most likely cause underlying the RP17 phenotype.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CA4 gene.
  • Retinitis pigmentosa 17
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the CA4 gene and its association with health conditions.

Where is the CA4 gene located?

Cytogenetic Location: 17q23

Molecular Location on chromosome 17: base pairs 60,149,940 to 60,159,545

The CA4 gene is located on the long (q) arm of chromosome 17 at position 23.

The CA4 gene is located on the long (q) arm of chromosome 17 at position 23.

More precisely, the CA4 gene is located from base pair 60,149,940 to base pair 60,159,545 on chromosome 17.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CA4?

You and your healthcare professional may find the following resources about CA4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CA4 gene or gene products?

  • CAIV
  • Car4
  • RP17

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CA4?

bicarbonate ; calcification ; capillaries ; choroid ; epithelium ; expressed ; fundus ; gastric ; gene ; homeostasis ; inherited ; isozyme ; peripheral ; pH ; phenotype ; photoreceptor ; pigment ; proximal ; pulmonary ; renal ; respiration ; retina ; sodium ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Published: March 2, 2015