| Primary Identifier | IPR019172 | Type | Family |
| Short Name | Osteopetrosis-assoc_TM_1 |
| 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 [, ]. |
