What is the function of ABCA1 transporter?

What is the function of ABCA1 transporter?

One of the major functions of ABCA1 is to transport cellular cholesterol and phospholipids to lipid-poor apolipoproteins, such as apoA-I, to generate HDL particles and to provide cells with an efficient mean for unloading excess cholesterol [28].

Is ABCA1 a lipid transfer protein?

In this review, information is presented to answer the question of whether ABCA1 is a lipid transfer protein. It will become apparent that because the transporter mediates the transfer of PL (and FC) from a cell PM (donor) to apoA-I (acceptor), the simple answer is “yes”.

Is ABCA1 an enzyme?

ATP-binding cassette transporter ABCA1 (member 1 of human transporter sub-family ABCA), also known as the cholesterol efflux regulatory protein (CERP) is a protein which in humans is encoded by the ABCA1 gene….ABCA1.

RNA expression pattern
BioGPS More reference expression data

What happens if ABCA1 does not function?

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 Tangier’s disease?

Tangier disease is most often characterized by enlarged orange- or yellow-colored tonsils. This discoloration is due to fatty deposits accumulating in the tonsils. Fatty deposits can also form in other organs causing enlargement of the throat, liver, spleen, or lymph nodes.

What do ABC proteins do?

ATP-binding cassette (ABC) transporters are a large superfamily of membrane proteins with diverse functions (Holland et al. 2003). They convert the energy gained from ATP hydrolysis into trans-bilayer movement of substrates either into the cytoplasm (import) or out of the cytoplasm (export).

What is difference between VLDL and LDL?

The main difference between VLDL and LDL is that they have different percentages of the cholesterol, protein, and triglycerides that make up each lipoprotein. VLDL contains more triglycerides. LDL contains more cholesterol. VLDL and LDL are both considered types of “bad” cholesterol.

What is abc1 gene?

ABCB1 is an environment susceptible gene that codes for P-glycoprotein (P-gp). P-gp is responsible for multidrug resistance during chemotherapy of breast cancer. Six different non-synonymous Single Nucleotide Polymorphism (nsSNPs) of human ABCB1 gene were found in COSMIC database.

What does Tangier disease do to the body?

What causes extremely low HDL?

Extremely low HDL-C may be artifactual due to assay interference from paraproteinemia, secondary to drugs or malignancy, or primary resulting from monogenic disorders, namely apoA-I deficiency, Tangier disease, or LCAT deficiency (Table 1).

Which is more harmful LDL or VLDL?

LDL is considered ‘bad’ cholesterol because high levels can lead to the buildup of plaque in your arteries,” said Chiadika. “VLDL is considered ‘bad’ cholesterol as well but it mainly carries triglycerides, the most common type of fat in your body.

What is ABCB1 transporter?

ABCB1, also known as multi-drug resistance protein 1 (MDRP1), is one of forty-nine putative members in the superfamily of human adenosine triphosphate (ATP)-binding cassette (ABC) transporters that encode transporter and channel proteins that function as efflux pumps.

Which protein is deficient in Tangier disease?

Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as “good cholesterol”, in the bloodstream.

What is the mutation that causes Tangier disease?

Causes. Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL , which transports them to the liver .

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.

How does atherosclerosis affect ABCA1 expression?

Thus, ABCA1 expression changes in tissues modified and damaged by atherosclerosis, such as plaques, macrophages, and mononuclear blood cells of patients with atherosclerosis.

Can microRNAs regulate ABCA1 expression in the liver and pancreas?

In the liver, ABCA1 is crucial for high-density lipoprotein biogenesis, and in the pancreas ABCA1 can regulate insulin secretion. In this study, our aim was to identify novel microRNAs that regulate ABCA1 expression in these tissues.

What changes in lipids inhibit ABCA1?

Another change in cell lipids that can inhibit ABCA1 is the presence of unsaturated fatty acids (103); their presence leads to phosphorylation of serine residues and destabilization of the transporter.

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