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Gene Symbol |
ABCA1 |
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Aliases |
ABC-1, ABC1, CERP, HDLDT1, TGD |
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Entrez Gene ID |
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Gene Name |
ATP-binding cassette, sub-family A (ABC1), member 1 |
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Chromosomal Location |
9q31 |
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HGNC ID |
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Summary |
The membrane-associated 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 intracellular membranes. 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 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. (provided by RefSeq)
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UniGene |
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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Protein Name |
Membrane-bound , ATP-binding cassette transporter 1 , ABC-1 , OTTHUMP00000021833 , ATP-binding cassette 1 , TGD , cholesterol efflux regulatory protein , ATP-binding cassette, sub-family A (ABC1), member 1, ABC1 , ATP-binding cassette transporter A1 , HDLDT1 , MGC164864 , ATP-binding cassette sub-family A member 1 , MGC165011 , Cholesterol efflux regulatory protein , CERP , FLJ14958 |
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Function |
cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport |
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UniProt |
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InterPro |
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Pfam |
Pfam Accession |
Pfam ID |
PF00005 |
ABC_tran |
ABC transporter |
PF12698 |
ABC2_membrane_3 |
ABC-2 family transporter protein |
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KEGG |
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OMIM |
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Phenotype MIM ID |
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Associated Diseases
Diseases |
References |
Alzheimers disease |
17324514, 15288432, 16596262, 17510949 |
Amyloid deposition |
16207713, 18202749 |
Cardiovascular diseases |
15262183, 16183915, 17093293, 16446539 |
Dyslipidemia |
17700364, 16501936, 18680692 |
Hypercholesterolemia |
18097620, 12624133 |
Inflammation |
10725792, 18752326, 20103810, 20137092 |
Obesity |
17923263, 17287470 |
Polycystic ovary syndrome (PCOS) |
22035022 |
Renal disease |
18802933, 19859071 |
Stroke |
17553166, 16446539, 16806540 |
Tangier disease |
10535983, 12236582, 11855831, 12576507 |
Xanthomatosis |
11950702 |
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References |
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Primary:
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Karadeniz Muammer, Erdogan Mehmet, Ayhan Zengi, Yalcin Murat, Olukman Murat, Cetinkalp Sevki, Alper Gulinnaz E, Eroglu Zuhal, Tetik Asli, Cetintas Vildan, Ozgen Ahmet G, Saygili Fusun, Yilmaz Candeger |
Department of Endocrinology, Sifa University, Health Application and Research Center, Izmir, Turkey. muammermd@hotmail.com. |
Lipids Health Dis. 2011 Oct 28;10:193. |
Abstract
BACKGROUND: Obesity, insulin resistance and hyperandrogenism, crucial parameters of Polycystic ovary syndrome (PCOS) play significant pathophysiological roles in lipidemic aberrations associated within the syndrome. Parts of the metabolic syndrome (low HDL and insulin resistance) appeared to facilitate the association between PCOS and coronary artery disease, independently of obesity. ABCA1 gene polymorphism may be altered this components in PCOS patients.In this study, we studied 98 PCOS patients and 93 healthy controls. All subjects underwent venous blood drawing for complete hormonal assays, lipid profile, glucose, insulin, malondialdehyde, nitric oxide, disulfide levels and ABCA genetic study. RESULTS: In PCOS group fasting glucose, DHEAS, 17-OHP, free testosterone, total-cholesterol, triglyceride, LDL-cholesterol and fibrinogen were significantly different compare to controls. The genotype ABCA G2706A distribution differed between the control group (GG 60.7%, GA 32.1%, AA 7.1%) and the PCOS patients (GG 8.7%, GA 8.7%, AA 76.8%). The frequency of the A allele (ABCAG2706A) was higher in PCOS patients than control group with 13,0% and 23,2%, respectively. In this study, the homocystein and insulin levels were significantly higher in PCOS patients with ABCA G1051A mutant genotype than those with heterozygote and wild genotypes. CONCLUSIONS: We found higher percentage of AA genotype and A allele of ABCA G2706A in PCOS patients compare to controls. The fasting insulin and homocystein levels were significantly higher in PCOS patients with ABCA G1051A mutant genotype than those with heterozygote and wild genotypes. |
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Supporting Literature:
PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS |
G2706A |
Rotterdam criteria |
Related
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98 PCOS patients and 93 healthy controls |
The study found a higher percentage of AA genotype and A allele of ABCA G2706A in PCOS patients compare to controls |
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