CLCN7

(redirected from Chloride channel protein 7)

CLCN7

A gene on chromosome 16p13 that encodes a member of the voltage-gated chloride channel and ion transporters.

Molecular pathology
CLCN7 mutations cause autosomal dominant osteopetrosis type 2 (OPTA2), also known as autosomal dominant Albers-Schonberg disease—which is the most common form of osteopetrosis—as well as causing autosomal recessive type 4 (OPTB4); both are characterised by defective resorption of immature bone.