osteopetrosis-associated transmembrane protein 1 (OSTM1, GL, HSPC019, UNQ6098/PRO21201)

Function

• role in osteoclast & melanocyte maturation & function

Compartment

membrane

Pathology

• defects in OSTM1 are a cause of autosomal recessive osteopetrosis

More general terms

• membrane protein
• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/259700
• OMIM: https://mirror.omim.org/entry/607649
• UniProt: http://www.uniprot.org/uniprot/Q86WC4.html