Species Human Entrez 26119 | Human Mouse Ensembl ENSG00000157978 | |
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Aliases LDLRAP1, ARH, ARH1, ARH2, FHCB1, FHCB2, low density lipoprotein receptor adaptor protein 1 External IDs MGI: 2140175 HomoloGene: 9219 GeneCards: LDLRAP1 | ||
Low-density lipoprotein receptor adapter protein 1 is a protein that in humans is encoded by the LDLRAP1 gene.
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTB) domain. The PTB 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.
Interactions
LDLRAP1 has been shown to interact with AP2B1 and LRP2.
References
Low-density lipoprotein receptor adapter protein 1 Wikipedia(Text) CC BY-SA