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ABCA1 (ATP-binding Cassette, Sub-family A, Member 1), also known as ABC1 (ABC Transporter 1) or CERP (Cholesterol efflux regulatory protein), is a member of the family of ATP-binding cassette (ABC) transporters. It is a cAMP-dependent, sulfonylurea-sensitive traffic ATPase, which is located at the plasma membrane and plays a key role in the cellular lipid removal pathway. ABCA1 supports apolipoprotein A-I (APOA1)-mediated cellular efflux of cholesterol and choline-phospholipids into the blood circulation; therefore, ABCA1 defects result in reduced plasma level of high density lipoproteins (HDL) combined with the tissue deposition of cholesteryl esters. Homozygous mutations in ABCA1 are the cause of Tangier disease, which is characterized by the absence of HDL in plasma, hepatosplenomegaly, peripheral neuropathy, and frequently premature coronary artery disease. Noticeably, heterozygous Tangier disease carriers have an approximately 2-fold reduction in HDL level. More commonly, ABCA1 inherited defects are associated with a milder condition, so-called familial hypoalphalipoproteinemia (FHA). FHA patients, similar to Tangier disease patients, demonstrate a very evident decrease of HDL level; however, they lack clinical manifestations.
Gene Name: | ATP-binding cassette, sub-family A (ABC1), member 1 |
Family/Subfamily: | Transporter , ATP-binding cassette - ABCA/ABC1 |
Synonyms: | ABCA1, ABC-1, ABC1, CERP, HDLDT1, Tangier disease, ATP-binding cassette 1, Td, Membrane-bound, TGD |
Target Sequences: | NM_005502 NP_005493.2 O95477 |
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