骨硬化病相关跨膜蛋白1抗体
规格：1mg/1ml
英文名： OSTM1
别名： GAIP-interacting protein N terminus; GIPN; GL antibody Grey lethal osteopetrosis; HSPC019; OPTB5; Osteopetrosis-associated transmembrane protein 1; Ostm1; OSTM1_HUMAN.
分子量： 33kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human OSTM1
交叉反应：Human, Mouse, Rat, Pig,
细胞定位：细胞膜
骨硬化病相关跨膜蛋白1抗体产品介绍：background: 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 *****hood. Defects in the OSTM1 gene are also the cause of the spontaneous gl mutant, which is responsible for a coat color defect in mice. Function: Required for osteoclast and melanocyte maturation and function (By similarity). Subcellular Location: Membrane; Single-pass type I membrane protein. DISEASE: Defects in OSTM1 are the cause of osteopetrosis骨硬化病相关跨膜蛋白1抗体 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 *****hood. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis,骨硬化病相关跨膜蛋白1抗体 growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. Database links: UniProtKB/Swiss-Prot: Q86WC4.1 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
骨硬化病相关跨膜蛋白1抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 Flow-Cyt=1:20-300 IF=1:50-200 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid