Pleckstrin Homology Domain-Containing Family M Member 1 (PLEKHM1) ELISA Kit for Human

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]

PLEKHM1: Involved in vesicular transport in the osteoclast. May have a role in sialyl-lex-mediated transduction of apoptotic signals. Defects in PLEKHM1 are the cause of osteopetrosis autosomal recessive type 6 (OPTB6); also known as autosomal recessive osteopetrosis intermediate form. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 17q21.31

Cellular Component: endosome membrane; intracellular membrane-bound organelle; lysosomal membrane; nucleolus

Molecular Function: metal ion binding

Biological Process: autophagy; lysosome localization; positive regulation of bone resorption; positive regulation of ruffle assembly; protein transport

Disease: Osteopetrosis, Autosomal Recessive 6