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Mouse Anti-PLEKHM1 Recombinant Antibody (1C9) (CBMAB-P2101-YC)

Provided herein is a Mouse monoclonal antibody against Human Pleckstrin Homology And RUN Domain Containing M1. The antibody can be used for immunoassay techniques, such as ELISA.
See all PLEKHM1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
1C9
Antibody Isotype
IgG2b, κ
Application
ELISA

Basic Information

Immunogen
PLEKHM1 (AAH64361, 957-1057 aa) partial recombinant protein with GST tag.
Specificity
Human
Antibody Isotype
IgG2b, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
pleckstrin homology domain containing, family M (with RUN domain) member 1
Introduction
PLEKHM1 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).
Entrez Gene ID
9842
UniProt ID
Q9Y4G2
Alternative Names
OPTB6; AP162; B2
Function
Acts as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Acts as a dual effector of RAB7A and ARL8B that simultaneously binds these GTPases, bringing about clustering and fusion of late endosomes and lysosomes (PubMed:25498145, PubMed:28325809).
Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Interaction with Arl8b is a crucial factor in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145).
Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity).
May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950).
May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725).
Involved in bone resorption (By similarity).
(Microbial infection) In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella-containing vacuole (SCV) probably in concert with the HOPS complex and Rab7.
Biological Process
Autophagosome-lysosome fusionManual Assertion Based On ExperimentIMP:UniProtKB
Late endosome to lysosome transportManual Assertion Based On ExperimentIMP:UniProtKB
Lysosome localizationManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of bone resorptionISS:UniProtKB
Positive regulation of ruffle assemblyISS:UniProtKB
Protein transportIEA:UniProtKB-KW
Cellular Location
Autolysosome membrane
Endosome membrane
Late endosome membrane
Lysosome membrane
In case of infection colocalizes with Salmonella typhimurium sifA in proximity of Salmonella-containing vacuole (SCV) (PubMed:25500191).
Involvement in disease
Osteopetrosis, autosomal recessive 6 (OPTB6):
A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis 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. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
Osteopetrosis, autosomal dominant 3 (OPTA3):
A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and an autosomal dominant form occurring in adolescence or adulthood. OPTA3 is characterized by typical features of osteopetrosis such as fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density. Some patients exhibit localized osteosclerosis and generalized osteopenia.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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