低密度脂蛋白受体衔接蛋白抗体
规格：1尘驳/1尘濒
英文名： ARH
别名： ARH; ARH GENE; ARH_HUMAN; ARH1; ARH2; Autosomal recessive hypercholesterolemia protein; FHCB1; FHCB2; LDL receptor adaptor protein; Ldlrap1; Low density lipoprotein receptor adapter protein 1.
分子量： 34kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human ARH/LDL
交叉反应：Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞浆
低密度脂蛋白受体衔接蛋白抗体产物介绍：background: The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. Function: Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Subunit: Interacts with LDLR. Binds to soluble clathrin trimers. Interacts with AP2B1; the interaction mediates the association with the AP-2 complex. Interacts with VLDLR Subcellular Location: Cytoplasm. Tissue Specificity: Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes. Post-translational modifications:低密度脂蛋白受体衔接蛋白抗体 Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in LDLRAP1 are the cause of autosomal recessive hypercholesterolemia (ARH) [MIM:603813]. ARH is a disorder caused by defective internalization of LDL receptors (LDLR) in the liver. ARH has the clinical features of familial hypercholesterolemia (FH) [MIM:143890] homozygotes, including severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. LDL receptor (LDLR) activity measured in skin fibroblasts is normal, as the LDL 低密度脂蛋白受体衔接蛋白抗体binding ability. Similarity: Contains 1 PID domain. Gene ID: 26119 Database links: Entrez Gene: 26119 Human Entrez Gene: 100017 Mouse Entrez Gene: 500564 Rat Omim: 605747 Human SwissProt: Q5SW96 Human SwissProt: Q8C142 Mouse Unigene: 590911 Human Unigene: 482148 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
低密度脂蛋白受体衔接蛋白抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （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：心血管 细胞生物
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid