CA6

Chr 1

carbonic anhydrase 6

Also known as: CA-VI, GUSTIN

NCBI Gene: 765 ENSG00000131686 UniProt: P23280

The carbonic anhydrase VI enzyme catalyzes the reversible hydration of carbon dioxide and is uniquely found in salivary glands and saliva. Mutations in CA6 cause autosomal recessive carbonic anhydrase VI deficiency, which presents with dental enamel defects and increased susceptibility to dental caries. The gene is not highly constrained against loss-of-function variants, consistent with its relatively mild phenotype affecting primarily dental health.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.92

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)