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PLEKHM1 Rabbit pAb

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Product Information
Application Applications Legend: E=ELISA WB=Western Blotting IHC=Immunohistochemistry IHC-P=Immunohistochemistry (Paraffin) IP=Immunoprecipitation IF=Immunofluorescence IC=Immunochemistry ICC=Immunocytochemistry FC=Flow Cytometry DB=Dot Blot	IHC-P, IHC-F, IF, E
Predicted	Rat, Pig, Human, Mouse, Rabbit, Horse
Host	Rabbit
Clonality	Polyclonal
Calculated MW	117 KDa
Physical State	Liquid
Immunogen	KLH conjugated synthetic peptide derived from human PLEKHM1
Epitope Specificity	546-700/1056
Isotype	IgG
Purity	affinity purified by Protein A
Buffer	0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
SIMILARITY	Contains 2 PH domains.Contains 1 phorbol-ester/DAG-type zinc finger.Contains 1 RUN domain.
SUBUNIT	In colon carcinoma and breast carcinoma cells, itinteracts with sialyl-lex-positive protein.
DISEASE	Defects in PLEKHM1 are the cause of osteopetrosisautosomal recessive type 6 (OPTB6) [MIM:611497]; also known asautosomal recessive osteopetrosis intermediate form. Osteopetrosisis a rare genetic disease characterized by abnormally dense bone,due to defective resorption of immature bone. The disorder occursin two forms: a severe autosomal recessive form occurring in utero,infancy, or childhood, and a benign autosomal dominant formoccurring in adolescence or adulthood. Autosomal recessiveosteopetrosis is usually associated with normal or elevated amountof non-functional osteoclasts.
Important Note	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Background Descriptions	Involved in vesicular transport in the osteoclast (By similarity). May have a role in sialyl-lex-mediated transduction of apoptotic signals. Tissue specificity: Expressed in placenta, liver, prostate, thymus, spleen, ovary, colon, colon carcinoma and peripheral blood lymphocytes (PBL). Weakly expressed in brain, lung, kidney, and testis. No expression in heart, skeletal muscle, pancreas and small intestine. Predominantly expressed in the breast carcinoma cell line MCF-7. Involvement in disease: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.

Additional Information
Gene ID	9842
Other Names	AP162; B2; OPTA3; OPTB6; pleckstrin homology and RUN domain containing M1; pleckstrin homology domain containing, family M (with RUN domain) member 1
Dilution	IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ELISA=1:5000-10000
Storage	Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
Name	PLEKHM1 Rabbit pAb
Function	Involved in vesicular transport in the osteoclast (Bysimilarity). May have a role in sialyl-lex-mediated transduction ofapoptotic signals.