Pleckstrin homology domain-containing family M member 1; PH domain-containing family M member 1; 162 kDa adapter protein; AP162; PLEKHM1; KIAA0356

For Research Use Only. Not for use in diagnostic procedures.

Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of PLEKHM1 blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Involved in vesicular transport in the osteoclast (By similarity). May have a role in sialyl-lex-mediated transduction of apoptotic signals.

117,443 Da

pleckstrin homology and RUN domain containing M1

pleckstrin homology domain-containing family M member 1

Pleckstrin homology domain-containing family M member 1

KIAA0356; PH domain-containing family M member 1; AP162??[Similar Products]

PKHM1_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 *****hood. 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

Disease: Osteopetrosis, Autosomal Recessive 6

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