Product Name	PLEKHM1
Chinese Name	石骨症相关蛋白PLEKHM1抗体
Alias	162 kDa adapter protein; AP162; PH domain-containing family M member 1; PKHM1_HUMAN; Pleckstrin homology domain-containing family M member 1; PLEKHM1.
literatures	Specific References  (1)     |     SL8062R has been referenced in 1 publications. [IF=4.556] Woojin Na. et al. Aesculetin Inhibits Osteoclastic Bone Resorption through Blocking Ruffled Border Formation and Lysosomal Trafficking. Int J Mol Sci. 2020 Jan;21(22):8581  WB ;  Mouse.   PubMed:33203061
Research Area	Cell biology  immunology
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Pig, Horse, Rabbit, )
Applications	ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	117kDa
Cellular localization	cytoplasmic
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human PLEKHM1: 546-700/1056
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	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. Function: Involved in vesicular transport in the osteoclast (Bysimilarity). May have a role in sialyl-lex-mediated transduction ofapoptotic signals. Subunit: In colon carcinoma and breast carcinoma cells, itinteracts with sialyl-lex-positive protein. Subcellular Location: Cytoplasm (Potential). Tissue Specificity: Expressed in placenta, liver, prostate,thymus, spleen, ovary, colon, colon carcinoma and peripheral bloodlymphocytes (PBL). Weakly expressed in brain, lung, kidney, andtestis. No expression in heart, skeletal muscle, pancreas and smallintestine. Predominantly expressed in the breast carcinoma cellline MCF-7. 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. Similarity: Contains 2 PH domains. Contains 1 phorbol-ester/DAG-type zinc finger. Contains 1 RUN domain. SWISS: Q9Y4G2 Gene ID: 9842 Database links: UniProtKB/Swiss-Prot: Q9Y4G2.3

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