OSTM1
Description
The OSTM1 (osteoclastogenesis associated transmembrane protein 1) is a protein-coding gene located on chromosome 6.
The OSTM1 gene produces a protein called Osteopetrosis-associated transmembrane protein 1. This protein is involved in the maturation and function of both osteoclasts, which break down bone, and melanocytes, which produce pigment. It helps regulate the breakdown of G proteins, which are important signaling molecules in cells, by tagging them for destruction through a process called ubiquitin-dependent proteasome pathway. OSTM1 interacts with other proteins called RGS proteins, specifically those in subfamily A of the regulator of the G-protein signaling family, through a specialized region at its beginning (N-terminus). It also has a unique domain in the middle called RING finger-like domain, which gives it the ability to attach ubiquitin tags to other proteins. This protein is found in many different organisms, from flies to humans, indicating its importance. Mutations in the OSTM1 gene can cause a severe form of osteopetrosis, a disease where bones become abnormally dense and fragile, known as autosomal recessive Albers-Schonberg disease. The production of the OSTM1 gene is controlled by a protein called Microphthalmia-associated transcription factor.
OSTM1 is essential for the proper development and function of osteoclasts and melanocytes.
OSTM1 is also known as GIPN, GL, HSPC019, OPTB5.
