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.

Polyclonal

Rabbit Ig

Rabbit

This PLEKHM1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 50-78 amino acids from the N-terminal region of human PLEKHM1.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-PLEKHM1 antibody 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.

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.

Neuroscience

Western Blot (WB), ELISA (EIA)

WB~~1:1000

PLEKHM1 Antibody (N-term) western blot analysis in K562 cell line lysates (35ug/lane).This demonstrates the PLEKHM1 antibody detected the PLEKHM1 protein (arrow).

117443

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

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

Cellular Component: cytoplasm

Molecular Function: metal ion binding

Disease: Osteopetrosis, Autosomal Recessive 6

Edwards, T.L., et al. Ann. Hum. Genet. 74(2):97-109(2010)
Del Fattore, A., et al. J. Bone Miner. Res. 23(3):380-391(2008)
Van Wesenbeeck, L., et al. J. Clin. Invest. 117(4):919-930(2007)
Hartel-Schenk, S., et al. Glycoconj. J. 18 (11-12), 915-923 (2001) :

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