LDLRAP1

Also known as ARH, ARH1, ARH2, FHCB1, FHCB2, low density lipoprotein receptor adaptor protein 1, FHCL4

protein-coding gene in the species Homo sapiens

Gene data

LDLRAP1

Name: low density lipoprotein receptor adaptor protein 1
Type: protein-coding
Position: 25,543,573–25,591,200 (+)
Aliases: ARH, ARH1, ARH2, FHCB1, FHCB2, FHCL4
Ensembl: ENSG00000157978
RefSeq RNA: NM_015627.3, XM_006710559.5, XM_006710560.5, XM_006710561.5, XM_011541209.4
RefSeq protein: NP_056442.2, XP_006710622.1, XP_006710623.1, XP_006710624.1, XP_011539511.1

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].