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OSTM1 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
WB
Primary Accession Q86WC4
Other Accession Q86WC4
Host Rabbit
Clonality Polyclonal
Calculated MW 37257 Da
Physical State Liquid
Immunogen KLH conjugated synthetic peptide derived from human OSTM1
Epitope Specificity 21-120/334
Isotype IgG
Purity affinity purified by Protein A
Buffer 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
DISEASE Defects in OSTM1 are the cause of osteopetrosis autosomal recessive type 5 (OPTB5) [MIM:259720]; also called infantile malignant osteopetrosis 3. 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. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy.
Important Note This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Background Descriptions OSTM1 (osteopetrosis associated transmembrane protein 1), also known as gl (gray-lethal) or HSPC019, is a 338 amino acid single-pass type I membrane protein that is expressed primarily in osteoclasts and melanocytes as well as brain, kidney and spleen. Bone autosomal recessive osteopetrosis (ARO) is the most severe form of hereditary bone disease whose cellular basis is in the osteoclast and is characterized by abnormally dense bone, due to defective resorption of immature bone. ARO is suggested to be caused by mutations in the OSTM1 gene. 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. Defects in the OSTM1 gene are also the cause of the spontaneous gl mutant, which is responsible for a coat color defect in mice.
Additional Information
Gene ID 28962
Other Names GIPN; GL; HSPC019; OPTB5; 1200002H13Rik; OSTM1_HUMAN; OSTM1; Chloride channel 7 beta subunit; OSTM1_MOUSE; Grey-lethal protein; osteoclastogenesis associated transmembrane protein 1; osteopetrosis associated transmembrane protein 1; CLCN7 accessory beta subunit; grey-lethal
Dilution WB=1:500-2000,Flow-Cyt=1 µg/Test
StorageStore 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.

For Research Use Only. Not For Use In Diagnostic Procedures.

Protein Information
Name OSTM1
Synonyms GL
Function Required for osteoclast and melanocyte maturation and function.
Cellular Location Lysosome membrane; Single-pass type I membrane protein Note=Requires CLCN7 to travel to lysosomes
Research Areas
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