What is ABCA1 gene?
What is ABCA1 gene?
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 activates ABCA1?
Activating protein kinase A and Rho family G protein CDC42 regulates ABCA1-mediated lipid efflux, activating PKC stabilizes ABCA1 protein, and activating JAK2/STAT3 regulates both ABCA1-mediated lipid efflux and anti-inflammation. Thus, ABCA1 behaves both as a lipid exporter and a signaling receptor.
What does ABCA1 do?
ABCA1 mediates the efflux of cholesterol and phospholipids to lipid-poor apolipoproteins (apoA1 and apoE) (reverse cholesterol transport), which then form nascent high-density lipoproteins (HDL). It also mediates the transport of lipids between Golgi and cell membrane.
What does the ABCD1 gene do?
The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP). ALDP is located in the membranes of cell structures called peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules.
Where is the ABCA12 gene located?
ABCA12: Harlequin type of congenital ichthyosis The ABCA12 gene located on chromosome 2q34 encodes a keratinocyte lipid transporter protein. The transporter plays an important role in transporting lipids in cells that make up the outermost layer of the skin (Yamanaka et al., 2007).
What is the Tangier disease?
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body’s tissues to the liver, where they are removed from the blood.
What is familial HDL deficiency?
Familial HDL deficiency is a rare genetic condition that causes low levels of “good” cholesterol (HDL) in the blood. HDL helps remove excess cholesterol and fats from your blood. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50.
What is Tangiers 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 does the ALD protein do?
The ABCD1 gene contains instructions for creating a protein called X-linked adrenoleukodystrophy protein or ALDP. This is a transporter protein; it helps to transport fat molecules called very long-chain fatty acids into structures called peroxisomes.
What are Harlequin Babies?
Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating.
What are the diseases associated with the ABCA1 gene?
ABCA1 (ATP Binding Cassette Subfamily A Member 1) is a Protein Coding gene. Diseases associated with ABCA1 include Tangier Disease and Hypoalphalipoproteinemia, Primary, 1 . Among its related pathways are Lipoprotein metabolism and Statin Pathway .
What is the function of the ABCG1 gene?
Entrez Gene Summary for ABCG1 Gene. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes.
How is ABCA1 related to lipoprotein metabolism?
ABCA1 (ATP Binding Cassette Subfamily A Member 1) is a Protein Coding gene. Diseases associated with ABCA1 include Tangier Disease and Hypoalphalipoproteinemia, Primary, 1 . Among its related pathways are Lipoprotein metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) .
What are the different types of ABC genes?
ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1… See more… The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.