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- Table of Contents
Facts about Low density lipoprotein receptor adapter protein 1.
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.
Human | |
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Gene Name: | LDLRAP1 |
Uniprot: | Q5SW96 |
Entrez: | 26119 |
Belongs to: |
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No superfamily |
ARH1; ARH2; ARHAutosomal recessive hypercholesterolemia protein; DKFZp586D0624; FHCB1ARH1; FHCB2LDL receptor adaptor protein; low density lipoprotein receptor adapter protein 1; low density lipoprotein receptor adaptor protein 1; MGC34705
Mass (kDA):
33.885 kDA
Human | |
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Location: | 1p36.11 |
Sequence: | 1; NC_000001.11 (25543588..25590400) |
Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes.
Cytoplasm.
PMID: 11326085 by Garcia C.K., et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
PMID: 12417523 by Wilund K.R., et al. Molecular mechanisms of autosomal recessive hypercholesterolemia.