GTR Home > Genes

CA2 carbonic anhydrase 2

Gene ID: 760, updated on 5-Aug-2018
Also known as: CAC; CAII; Car2; CA-II; HEL-76; HEL-S-282

Summary

The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Osteopetrosis with renal tubular acidosis
MedGen: C0345407OMIM: 259730GeneReviews: Not available
See labs

Genomic context

Location:
8q21.2
Sequence:
Chromosome: 8; NC_000008.11 (85463902..85481492)
Total number of exons:
7

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center