Apolipoprotein A I

Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility.

Hypoalphalipoproteinemia, primary, 2

FHA2

An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk.

None

The disease is caused by variants affecting the gene represented in this entry.

Hypoalphalipoproteinemia, primary, 2, intermediate

FHA2I

An autosomal dominant disorder of lipoprotein metabolism, biochemically characterized by partial apoA-I deficiency and reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have half the normal plasma apoA-I and HDL-C levels, and may develop xanthomas and corneal opacities. Most patients do not have increased cardiovascular risk.

None

The disease is caused by variants affecting the gene represented in this entry.

Familial apolipoprotein gene cluster deletion syndrome

FAPLDS

An autosomal dominant disorder of lipoprotein metabolism. Affected individuals do not produce ApoA-I, ApoC-III and ApoA-IV lipoproteins, have marked plasma high density lipoprotein (HDL) deficiency, and manifest premature atherosclerosis and coronary artery disease.

None

The gene represented in this entry is involved in disease pathogenesis.

Amyloidosis, hereditary systemic 3

AMYLD3

A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD3 clinical features include amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Inheritance is autosomal dominant.

None

The disease is caused by variants affecting the gene represented in this entry.

Glycosylated.

Palmitoylated.

Phosphorylation sites are present in the extracellular medium.

Belongs to the apolipoprotein A1/A4/E family.

Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in carrier of the eNOSa/b genotype and exposure to cigarette smoking. It is also present in increased levels in aortic lesions relative to native ApoA-I and increased levels are seen with increasing severity of disease.

• Secreted

Apolipoprotein A-I, Apo-AI, ApoA-I, Apolipoprotein A1, APOA1

• entrezGene:335
• omim:107680
• swissprot:P02647

Proteins

Cardiovascular

• Oncology

30778Da