B2; AP162; OPTB6; KIAA0356; Pleckstrin homology domain-containing family M member 1; 162 kDa adapter protein; PH domain-containing family M member 1; pleckstrin homology domain containing, family M (with RUN domain) member 1

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

Liquid

200 ug/mL (lot specific)

Store PLEKHM1 peptide at -20 degree C, stable for one year.

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.

Blocking (BL)

PLEKHM1 peptide is used for blocking the activity of PLEKHM1 antibody.

117,443 Da

pleckstrin homology domain containing, family M (with RUN domain) member 1

pleckstrin homology domain-containing family M member 1; 162 kDa adapter protein; PH 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

Cellular Component: cytoplasm

Molecular Function: metal ion binding

Disease: Osteopetrosis, Autosomal Recessive 6

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