Gene: APOA1

Alternate names for this Gene: HPALP2|apo(a)

Gene Summary: This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: apolipoprotein A1

Type of Gene: protein-coding

Gene: APOA1-AS

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs121912724 in APOA1;APOA1-AS gene and Amyloidosis, familial visceral PMID 3142462 1988 Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.

PMID 8208902 1994 Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26.

PMID 1502149 1992 Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.

PMID 2123470 1990 A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.

rs670 in APOA1;APOA1-AS gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs12721025 in APOA1;APOA1-AS gene and Pyloric Stenosis, Hypertrophic PMID 23989729 2013 Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.

PMID 30281099 2019 Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.

rs2070665 in APOA1;APOA1-AS gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs5072 in APOA1;APOA1-AS gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs5072 in APOA1;APOA1-AS gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.