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FLASH GENE

Symbol

ABCA1

contributors: mct/shn - updated : 29-08-2018

HGNC name	ATP-binding cassette, sub-family A (ABC1), member 1
HGNC id	29

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HDLDT1 , HDLD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in atheroma compared with macroscopically intact tissue tumoral     --low   in breast cancer which seems to be associated with poor prognosis constitutional     --over   increased ABCA1, ABCG5, and ABCG8 expression in cholesterol-related gallbladder diseases (CAGD) constitutional       loss of function protects the heart against myocardial infarction-induced injury constitutional       loss of function decreases platelet reactivity and reduces thromboxane A2 production independently of hematopoietic ABCA1

Susceptibility

to coronary artery disease and atherosclerosis to Alzheimer disease and cerebrovascular disease to Primary open-angle glaucoma (POAG)

Variant & Polymorphism SNP , other	R219K variant decreased severity of coronary artery
	disease V825I and M883I associated with coronary artery disease, 825I variant having higher activity in mediating cholesterol efflux than the wild-type (825V), influences age of symptom onset (lower) in coronary artery disease patients
	variant (219K, 883I, and 1587R), or promoter variant (14T) in concert with the APOE4 allele, increasing the risk of Alzheimer
	associated with intermediate and large drusen and advanced age-related macular degeneration (
	loss-of-function mutation in ABCA1, present in 1/500 individuals, was associated with low plasma levels of APOE and with high risk of AD and cerebrovascular disease in the general population
	rs2472493 is associated with development of POAG

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed metabolism lipid cholesterol increasing the expression of ABCA1 in placenta and thereby the transfer of cholesterol to Smith–Lemli–Opitz fetuses can potentially mitigate the SLOS phenotype

ANIMAL & CELL MODELS

	mice with a targeted inactivation of Abc1 display morphologic abnormalities and perturbations in their lipoprotein metabolism (
	Abc1 knockout (-/-) mice revealed an approximately 70% reduction in cholesterol, markedly reduced plasma phospholipids, and an almost complete lack of high density lipoproteins (
	Abca1-/- mice have greatly decreased apoE levels in both the cortex (80%) and the cerebrospinal fluid (98%) (
	cerebrospinal fluid from Abca1-/- mice had significantly reduced cholesterol as well as small apoE-containing lipoproteins (
	Abca1-/- astrocytes secreted lipoprotein particles that had markedly decreased cholesterol and apoE and had smaller apoE-containing particles (
	in both astrocytes and microglia, ABCA1 deficiency reduces lipid efflux to exogenous apoE (
	the impaired ability to efflux lipids in ABCA1-/- glia results in lipid accumulation in both astrocytes and microglia and apoE secretion is compromised in ABCA1-/- astrocytes and microglia (
	total plasma cholesterol was significantly reduced by approximately 30% in mice that lack ABCA1 exclusively in the intestine because of a significant reduction in plasma HDL cholesterol (
	apoA-I, apoA-II, and apoB were significantly decreased in mice that lack ABCA1 exclusively in the intestine (
	mice lacking both intestinal and hepatic ABCA1 displayed a further significant decrease in plasma HDL cholesterol levels (
	Mice deficient in displayed leukocytosis, a transplantable myeloproliferative disorder, and a dramatic expansion of the stem and progenitor cell population containing Lin(-)Sca-1(+)Kit+ (LSK) in the bone marrow (
	platelets in Abca1-deficient mice are slightly larger in size and exhibit aggregation and secretion defects in response to low concentrations of thrombin and collagen