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FITC標(biāo)記的低密度脂蛋白受體銜接蛋白抗體

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產(chǎn)品簡(jiǎn)介

FITC標(biāo)記的低密度脂蛋白受體銜接蛋白抗體產(chǎn)品介紹：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

詳細(xì)介紹

英文名稱Anti-ARH/FITC
中文名稱FITC標(biāo)記的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.
說(shuō) 明 書(shū)100ul  
研究領(lǐng)域心血管  細(xì)胞生物  
抗體來(lái)源Rabbit
克隆類型Polyclonal
交叉反應(yīng)Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep, 
產(chǎn)品應(yīng)用IF=1:50-200  
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量34kDa
性    狀Lyophilized or Liquid
濃    度1mg/ml
免 疫 原KLH conjugated synthetic peptide derived from human ARH/LDL receptor adaptor protein
亞    型IgG
純化方法affinity purified by Protein A
儲(chǔ) 存 液Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4
保存條件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. 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.
產(chǎn)品介紹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:
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. 


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