Human ARH peptide (ab23072)
- Datasheet
- References
- Protocols
Description
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Product name
Human ARH peptide
See all ARH proteins and peptides -
Animal free
No -
Nature
Synthetic -
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Species
Human -
Sequence
DALKSAGRALIRS-C -
Amino acids
9 to 21
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Associated products
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Corresponding Antibody
Specifications
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.
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Applications
Blocking - Blocking peptide for Anti-ARH antibody (ab5082)
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Form
Liquid -
Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
General Info
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Alternative names
- ARH
- ARH GENE
- ARH_HUMAN
see all -
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. -
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. -
Involvement in 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. -
Sequence similarities
Contains 1 PID domain. -
Domain
The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1. -
Post-translational
modificationsPhosphorylated upon DNA damage, probably by ATM or ATR. -
Cellular localization
Cytoplasm. - Information by UniProt
Datasheets and documents
References
ab23072 has not yet been referenced specifically in any publications.