CLCN7(redirected from OTTHUMP00000041762)
CLCN7A gene on chromosome 16p13 that encodes a member of the voltage-gated chloride channel and ion transporters.
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.
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