概述

描述

  • 性质Synthetic
  • 氨基酸序列
    • 种属Human
    • 序列DALKSAGRALIRS-C
    • 氨基酸9 to 21

相关产品

技术指标

Our Abpromise guarantee covers the use of ab23072 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    Blocking - Blocking peptide for Anti-ARH antibody (ab5082)

  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

常规信息

  • 别名
    • ARH
    • ARH GENE
    • ARH_HUMAN
    • ARH1
    • ARH2
    • Autosomal recessive hypercholesterolemia protein
    • DKFZp586D0624
    • FHCB1
    • FHCB2
    • LDL receptor adaptor protein
    • Ldlrap1
    • Low density lipoprotein receptor adapter protein 1
    • MGC34705
    • OTTHUMP00000008526
    see all
  • 功能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.
  • 组织特异性Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes.
  • 疾病相关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.
  • 序列相似性Contains 1 PID domain.
  • 结构域The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1.
  • 翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.
  • 细胞定位Cytoplasm.
  • Information by UniProt

Human ARH peptide (ab23072)参考文献

ab23072 has not yet been referenced specifically in any publications.

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