Family

Osteopetrosis-associated transmembrane protein 1 precursor (IPR019172)

Short name: Osteopetrosis-assoc_TM_1

Family relationships

None.

Description

Osteopetrosis-associated transmembrane protein 1 (OSTM1) is required for osteoclast and melanocyte maturation and function. Mutations in OSTM1 give rise to autosomal recessive osteopetrosis, also called autosomal recessive Albers-Schonberg disease [PMID: 12627228, PMID: 16813530].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PANTHER