PLEKHM1


Pleckstrin homology domain-containing family M member 1 also known as PLEKHM1 is a protein that in humans is encoded by the PLEKHM1 gene.

Function

PLEKHM1 may have critical function in vesicular transport in osteoclasts.

Clinical significance

Mutations in the PLEKHM1 gene are associated with osteopetrosis OPTB6.