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ARH Rabbit pAb (bs-6337R)  
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產(chǎn)品編號 bs-6337R
英文名稱 ARH Rabbit pAb
中文名稱 低密度脂蛋白受體銜接蛋白抗體
別    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.  
研究領域 心血管  細胞生物  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 Mouse,Rat (predicted: Human,Rabbit,Pig,Sheep,Cow,Chicken,Dog,Horse)
產(chǎn)品應用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 34 kDa
檢測分子量
細胞定位 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human ARH/LDL receptor adaptor protein: 41-140/308 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 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:
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 binding ability.

Similarity:
Contains 1 PID domain.

SWISS:
Q5SW96

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




產(chǎn)品圖片
Sample: Lane 1: Mouse Kidney Lysates Lane 2: Mouse Liver Lysates Lane 3: Rat Kidney Lysates Lane 4: Rat Liver Lysates Primary: Anti-ARH (bs-6337R) at 1/1000 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 34kDa Observed band size: 34kDa
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