Structural highlights
Disease
OSTM1_HUMAN Infantile osteopetrosis with neuroaxonal dysplasia. The disease is caused by variants affecting the gene represented in this entry.
Function
OSTM1_HUMAN Required for osteoclast and melanocyte maturation and function.[1]
See Also
References
- ↑ Leisle L, Ludwig CF, Wagner FA, Jentsch TJ, Stauber T. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. EMBO J. 2011 Jun 1;30(11):2140-52. PMID:21527911 doi:10.1038/emboj.2011.137
