What is ABCA1 in biology?
ABCA1 is the cholesterol/phospholipid efflux protein that is defective in patients with Tangier disease and familial HDL deficiency. These patients cannot form HDL, and therefore have a defect in reverse cholesterol transport, whereby cholesterol is mobilized from peripheral sites and returned to the liver.
What chromosome is the ABCA1 gene on?
Chromosome 9
ABCA1
| Gene location (Human) | ||
|---|---|---|
| Chr. | Chromosome 9 (human) | |
| Band | 9q31.1 | Start |
| End |
What is Swyer James syndrome?
Swyer-James-MacLeod syndrome is a rare lung disorder characterized by a reduction in the pulmonary vasculature and alveolar hyperdistention, with or without the presence of bronchiectasis. It is believed to be the result of childhood bronchiolitis obliterans.
What does the ABCA1 gene do?
The ABCA1 gene belongs to a group of genes called the ATP-binding cassette family, which provides instructions for making proteins that transport molecules across cell membranes. The ABCA1 protein is produced in many tissues, with high amounts found in the liver and in immune system cells called macrophages.
What is the role of ABCA1 in Tangier disease?
ABCA1 has been shown to be reduced in Tangier disease which features physiological deficiencies of HDL. Leukocytes ABCA1 gene expression is upregulated in postmenopausal women receiving hormone replacement therapy (HRP). Click on genes, proteins and metabolites below to link to respective articles.
What is the physiological role of ABCA1 in senescent macrophages?
Physiological role. Downregulation of ABCA1 in senescent macrophages disrupts the cell’s ability to remove cholesterol from its cytoplasm, leading the cells to promote pathologic atherogenesis (blood vessel thickening/hardening) which “plays a central role in common age-associated diseases such as atherosclerosis, cancer,…
Do molecular defects in the ABCA1 pathway affect platelet function?
“Molecular defects in the ABCA1 pathway affect platelet function”. Pathophysiology of Haemostasis and Thrombosis. 35 (1–2): 166–74. doi: 10.1159/000093563. PMID 16855366.