Species Human Entrez 9842 | Human Mouse Ensembl n/a | |
Aliases PLEKHM1, AP162, B2, OPTB6, pleckstrin homology and RUN domain containing M1 External IDs MGI: 2443207 HomoloGene: 8871 GeneCards: 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.
Contents
Function
PLEKHM1 may have critical function in vesicular transport in osteoclasts.
Clinical significance
Mutations in the PLEKHM1 gene are associated with osteopetrosis OPTB6.
References
PLEKHM1 Wikipedia(Text) CC BY-SA