LDLRAP1, Official Symbol LDLRAP1provided by HGNC Official Full Name low density lipoprotein receptor adaptor protein 1provided by HGNC Primary source HGNC:HGNC:18640 See related Ensembl:ENSG00000157978 MIM:605747; AllianceGenome:HGNC:18640 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4 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] Expression Ubiquitous expression in spleen (RPKM 14.0), lymph node (RPKM 12.3) and 25 other tissues See more Orthologs mouse all