Also known as

CA-VI, GUSTIN

Overview

CA6 is a gene that codes for a protein called carbonic anhydrase VI. This protein is involved in the regulation of pH in various tissues of the body. It is found in the salivary glands, pancreas, and other organs, where it helps to neutralize acid produced by the body. Carbonic anhydrase VI is also found in the stomach, where it helps to protect the mucous lining from acid. Mutations in the CA6 gene have been linked to a rare condition called congenital hypothyroidism with goiter, which is characterized by an underactive thyroid gland and an enlarged thyroid gland (goiter). Other conditions that have been associated with CA6 mutations include dental abnormalities, respiratory problems, and hearing loss.

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