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

PLEKHM1 Antibody

Cat. Num. AAA9407815

• Gene Names: PLEKHM1; B2; AP162; OPTB6
• Reactivity: Human
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: Affinity chromatography purified via peptide column
• Synonyms: PLEKHM1; Polyclonal Antibody; PLEKHM1 Antibody; Pleckstrin homolog domain containing family M member 1; OPTB6; B2; AP162; anti-PLEKHM1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Purity/Purification: Affinity chromatography purified via peptide column
• Form/Format: Supplied in PBS containing 0.02% sodium azide.
• Sequence Length: 1056

• Applicable Applications for anti-PLEKHM1 antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Immunogen Type: Peptide
• Immunogen Description: Raised against an 18 amino acid peptide from near the amino terminus of human PLEKHM1.
• Target Name: PLEKHM1
• Preparation and Storage: 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.

Western Blot (WB)

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

Immunohistochemistry (IHC)

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

Related Product Information for anti-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.

Product Categories/Family for anti-PLEKHM1 antibody

Total protein Ab

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
• NCBI Official Synonym Full Names: pleckstrin homology domain containing, family M (with RUN domain) member 1
• 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