Rabbit anti-Human PLEKHM1 Polyclonal Antibody | anti-PLEKHM1 antibody

PLEKHM1, NT (PLEKHM1, KIAA0356, Pleckstrin homology domain-containing family M member 1, 162kD adapter protein) (PE)

Cat. Num. AAA6334915

• Gene Names: PLEKHM1; B2; AP162; OPTB6
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: PLEKHM1; Polyclonal Antibody; NT (PLEKHM1; KIAA0356; Pleckstrin homology domain-containing family M member 1; 162kD adapter protein) (PE); 162kD adapter protein; anti-PLEKHM1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).

• Applicable Applications for anti-PLEKHM1 antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: PLEKHM1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 49-78 amino acids from the N-terminal region of human PLEKHM1.
• Conjugate: PE
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: PE conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

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

Related Product Information for anti-PLEKHM1 antibody

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.

Product Categories/Family for anti-PLEKHM1 antibody

Antibodies; Pleckstrin Homology Proteins

References

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).

NCBI and Uniprot Product Information

• NCBI GI #: 40538728
• NCBI GeneID: 9842
• NCBI Accession #: NP_055613.1
• NCBI GenBank Nucleotide #: NM_014798.2
• UniProt Accession #: Q9Y4G2; Q6P2R5; Q8TEL9; Q9NPP5; Q9NYA0
• Molecular Weight: 117,443 Da
• NCBI Official Full Name: pleckstrin homology domain-containing family M member 1 isoform 1
• NCBI Official Synonym Full Names: pleckstrin homology and RUN domain containing M1
• NCBI Official Symbol: PLEKHM1
• NCBI Official Synonym Symbols: B2; AP162; OPTB6
• NCBI Protein Information: pleckstrin homology domain-containing family M member 1
• UniProt Protein Name: Pleckstrin homology domain-containing family M member 1
• Protein Family: Pleckstrin homology domain-containing family
• UniProt Gene Name: PLEKHM1
• UniProt Synonym Gene Names: KIAA0356; PH domain-containing family M member 1; AP162
• UniProt Entry Name: PKHM1_HUMAN

NCBI Description

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]

Uniprot Description

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 adulthood. 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