Pleckstrin homolog domain containing family M member 1, OPTB6, B2, AP162

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

Polyclonal

Rabbit

Affinity chromatography purified via peptide column

Supplied in PBS containing 0.02% sodium azide.

Can be stored at -20 degree C, stable for one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

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.

PLEKHM1 is a member of the M family of Pleckstrin homolog domain-containing proteins, a group of proteins containing a RUN domain, two pleckstrin homology domains, and a cysteine-rich domain. It was identified through segregation analysis as a cause of osteopetrosis in humans. PLEKHM1 co-localizes with Rab7 to late endosomal/lysosomal vesicles in HEK293 and osteoclast-like cells, with this co-localization dependent on the prenylation of Rab7. Monocytes from a patient homozygous for a mutated form of PLEKHM1differentiated into osteoclasts normally, but failed to form ruffled borders and showed little evidence of bone resorbtion when cultured on dentine discs. Another mutation of PLEKHM1 impaired vesicular acidification and increased TRACP secretion in osteoclasts, suggesting that PLEKHM1 has critical roles in endosomal maturation and may be important in osteoclast-osteoblast cross-talk.

Total protein Ab

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

Western blot analysis of PLEKHM1 in human lung tissue lysate with PLEKHM1 antibody at 1 ug/mL.

Immunohistochemistry of PLEKHM1 in human lung tissue with PLEKHM1 antibody at 5 ug/mL.

117,443 Da

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

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