PLEKHM1 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a partial recombinant PLEKHM1.
|Calculated MW||117443 Da|
|Other Names||Pleckstrin homology domain-containing family M member 1, PH domain-containing family M member 1, 162 kDa adapter protein, AP162, PLEKHM1, KIAA0356|
|Target/Specificity||PLEKHM1 (AAH64361, 957 a.a. ~ 1056 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||PLEKHM1 Antibody (monoclonal) (M01) is for research use only and not for use in diagnostic or therapeutic procedures.|
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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.
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Edwards TL, et al. Ann Hum Genet, 2010 Mar. PMID 20070850.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. Del Fattore A, et al. J Bone Miner Res, 2008 Mar. PMID 17997709.Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. Van Wesenbeeck L, et al. J Clin Invest, 2007 Apr. PMID 17404618.Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, et al. Cell, 2005 Sep 23. PMID 16169070.
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