TCIRG1


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).