TCIRG1

(redirected from ATPase, H+ transporting, 116kD)

TCIRG1

A gene on chromosome 11q13.2 that encodes an osteoclast-specific H+-ATPase proton pump and multipass membrane protein that is part of the proton channel of V-ATPases, thought to be involved in T-cell activation.

Molecular pathology
Defects in TCIRG1 cause osteopetrosis autosomal recessive type 1 (autosomal recessive Albers-Schonberg disease).
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