Search results for abx027171

Pleckstrin Homology Domain-Containing Family M Member 1 (PLEKHM1) Antibody, Abbexa, abx027171

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.