ATP binding cassette subfamily A member 1
Also known as ATP-binding cassette transporter 1, phospholipid-transporting ATPase ABCA1, ABC-1, ATP-binding cassette, sub-family A (ABC1), member 1, ATP-binding cassette sub-family A member 1, cholesterol efflux regulatory protein, membrane-bound, ATP-binding cassette 1
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. This transporter is a major regulator of cellular cholesterol and phospholipid homeostasis.
Clinical Trials
12 registered- PHASE3COMPLETEDEffect of High Protein Diet on Adiponectin and Inflammation Among Overweight and Obese ChildrenIsfahan University of Medical Sciences · NCT01886495
- PHASE1/PHASE2COMPLETEDEvaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ABCC6 Deficiency Causing PXEInozyme Pharma · NCT05030831
- PHASE3COMPLETEDEffect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese ChildrenIsfahan University of Medical Sciences · NCT01886482
- PHASE3COMPLETED
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Article
10 sectionsContents
- Tangier disease
- Function
- Physiological role
- Clinical significance
- Interactive pathway map
- Interactions
- See also
- References
- Further reading
- External links
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. This transporter is a major regulator of cellular cholesterol and phospholipid homeostasis.
== Tangier disease == It was discovered that a mutation in the ABCA1 protein is responsible for causing Tangier disease by several groups in 1998. Gerd Schmitz's group in Germany and Michael Hayden's group in British Columbia were using standard genetics techniques and DNA from family pedigrees to locate the mutation. Richard Lawn's group at CV Therapeutics in Palo Alto, CA used cDNA microarrays, which were relatively new at the time, to assess gene expression profiles from cell lines created from normal and affected individuals. They showed cell lines from patients with Tangier's disease showed differential regulation of the ABCA1 gene. Subsequent sequencing of the gene identified the mutations. This group received an award from the American Heart Association for their discovery. Tangier disease has been identified in nearly 100 patients worldwide, and patients have a broad range of biochemical and clinical phenotypes as over 100 different mutations have been identified in ABCA1 resulting in the disease.