Gene Symbol | LDLRAP1 |
Entrez Gene ID | 26119 |
Full Name | low density lipoprotein receptor adaptor protein 1 |
Synonyms | ARH,ARH1,ARH2,FHCB1,FHCB2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hypercholesterolemia, familial, autosomal recessive, 603813 (3) |