Entrez gene ID | | 26119 |
Official gene symbol | | LDLRAP1 |
Full name | | low density lipoprotein receptor adaptor protein 1 |
Aliases | | ,ARH,ARH1,ARH2,DKFZp586D0624,FHCB1,FHCB2,MGC34705, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p36-p35 |
Gene position | | 25870076 - 25895377 Map Viewer |
Gene orientation | | plus |
Gene size | | 25302 bp |
Gene sequence |
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OMIM ID | | 605747 |