DISEASES

Disease-gene associations mined from literature

Literature associating OSTM1 and autosomal dominant osteopetrosis 2

OSTM1 [ENSP00000193322]

Osteopetrosis associated transmembrane protein 1; Required for osteoclast and melanocyte maturation and function.

Synonyms:  OSTM1,  OSTM1p,  hOSTM1,  OSTM1-001,  OSTM1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM