PLEKHM1 Antibody

Product Specifications

Background

PLEKHM1 Antibody: 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.

NCBI Gene ID

9842

Swiss Prot

Q9Y4G2

Accession Number

Q9Y4G2

Host

Rabbit

Reactivity

Human

Clonality

Polyclonal

Conjugation

Unconjugated

Type

Primary Antibodies

Field of Research

Stem Cell

Purification

PLEKHM1 Antibody is affinity chromatography purified via peptide column.

Positive Control

Cat. No. 1302 - Human Lung Tissue Lysate

Concentration

1 mg/mL

Homology

Predicted species reactivity based on immunogen sequence: Rat: (89%), Mouse: (83%)

Buffer

PLEKHM1 Antibody is supplied in PBS containing 0.02% sodium azide.

Modification

None

Shipping Conditions

Blue Ice

Storage Conditions

PLEKHM1 antibody can be stored at 4˚ C for three months and -20˚ C, stable for up to 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.

Fragment

IgG

Symbol

PLEKHM1

Positive Control 2

Cat. No. 10-101 - Human Lung Tissue Slide

NCBI Official Name

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

NCBI Organism

Homo sapiens

Background Reference 01

Van Wesenbeeck L, Odgren PR, Mackay CA, et al. Localization of the gene causing the osteopetrotic phenotype in the incisors absent (ia) rat on chromosome 10q32.1. J. Bone Miner. Res.2004; 19:183-9.

Background Reference 02

Van Wesenbeeck L, Odgren PR, Coxon FP, et al. Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J. Clin. Invest.2007; 117:919-30.

Background Reference 03

Del Fattore A, Fornari R, Van Wesenbeeck L, et al. A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. J. Bone Miner. Res.2008; 23:380-91.

Other Product Names

PLEKHM1 Antibody: B2, AP162, OPTB6, KIAA0356, Pleckstrin homology domain-containing family M member 1, 162 kDa adapter protein, PH domain-containing family M member 1