Gene: LDLRAP1

Alternate names for this Gene: ARH|ARH1|ARH2|FHCB1|FHCB2|FHCL4

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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11

Description of this Gene: low density lipoprotein receptor adaptor protein 1

Type of Gene: protein-coding

rs1201229554 in LDLRAP1 gene and HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE PMID 11326085 2001 Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.

PMID 27247956 2016 Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

PMID 15485476 2004 Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment.

PMID 12464675 2002 Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.

PMID 12016260 2002 Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.

PMID 12788851 2003 Clinical features and genetic analysis of autosomal recessive hypercholesterolemia.

PMID 21872251 2011 A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.

PMID 22157599 2012 Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo.

rs12096438 in LDLRAP1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12096438 in LDLRAP1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.