Gene Symbol | PLEKHM1 |
Entrez Gene ID | 9842 |
Full Name | pleckstrin homology and RUN domain containing M1 |
Synonyms | AP162,B2,OPTB6 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]. |
Disorder MIM: | |
Disorder Html: | Osteopetrosis, autosomal recessive 6, 611497 (3) |