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ABCA1  단백질

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    ABCA1 요약 및 단백질 정보

    ABCA1 배경

    하부단위 구조: Interacts with MEGF10. {ECO:0000269|PubMed:17205124}.
    도메인: Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
    세포하 위치: Membrane {ECO:0000269|PubMed:19258317, ECO:0000269|PubMed:19556522}; Multi-pass membrane protein {ECO:0000269|PubMed:19258317, ECO:0000269|PubMed:19556522}.
    조직 특이성: Widely expressed, but most abundant in macrophages.
    유도: By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202. {ECO:0000269|PubMed:11279031, ECO:0000269|PubMed:12032171}.
    번역 후: Phosphorylation on Ser-2054 regulates phospholipid efflux. {ECO:0000269|PubMed:12196520}.; Palmitoylation by DHHC8 is essential for membrane localization. {ECO:0000269|PubMed:19556522}.
    질병과의 관련성: DISEASE: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. {ECO:0000269|PubMed:10431236, ECO:0000269|PubMed:10431237, ECO:0000269|PubMed:10706591, ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11086027, ECO:0000269|PubMed:11257260, ECO:0000269|PubMed:11476961, ECO:0000269|PubMed:11476965, ECO:0000269|PubMed:11785958, ECO:0000269|PubMed:12111371, ECO:0000269|PubMed:12111381, ECO:0000269|PubMed:12407001, ECO:0000269|PubMed:14576201, ECO:0000269|PubMed:15019541, ECO:0000269|PubMed:15158913, ECO:0000269|PubMed:15262183, ECO:0000269|PubMed:15297675, ECO:0000269|PubMed:15520867}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. {ECO:0000269|PubMed:10431236, ECO:0000269|PubMed:10533863, ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11086027, ECO:0000269|PubMed:12009425, ECO:0000269|PubMed:12204794, ECO:0000269|PubMed:15722566}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    염기서열 유사성: Belongs to the ABC transporter superfamily. ABCA family. {ECO:0000305}.; Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule:PRU00434}.
    General information above from UniProt

    ABCA1 대체 이름

    TGD,ABC1,CERP,ABC-1,HDLDT1, [homo-sapiens]
    Abc1,ABC-1, [mus-musculus]

    ABCA1 관련 연구

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