Gene: OSTM1

Alternate names for this Gene: GIPN|GL|HSPC019|OPTB5

Gene Summary: This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis.

Gene is located in Chromosome: 6

Location in Chromosome : 6q21

Description of this Gene: osteoclastogenesis associated transmembrane protein 1

Type of Gene: protein-coding