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ABCD1  基因

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ABCD1 相关研究领域

ABCD1 相关信号通路

    ABCD1 概述&蛋白信息

    ABCD1 研究背景

    亚单位结构: Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19. {ECO:0000269|PubMed:10551832, ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:10777694}.
    亚细胞定位: Peroxisome membrane; Multi-pass membrane protein.
    相关疾病 : DISEASE: Adrenoleukodystrophy (ALD) [MIM:300100]: A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. {ECO:0000269|PubMed:10369742, ECO:0000269|PubMed:10480364, ECO:0000269|PubMed:10737980, ECO:0000269|PubMed:10980539, ECO:0000269|PubMed:11438993, ECO:0000269|PubMed:11810273, ECO:0000269|PubMed:15643618, ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498, ECO:0000269|PubMed:7581394, ECO:0000269|PubMed:7717396, ECO:0000269|PubMed:7825602, ECO:0000269|PubMed:7849723, ECO:0000269|PubMed:7904210, ECO:0000269|PubMed:8040304, ECO:0000269|PubMed:8566952, ECO:0000269|PubMed:8651290, ECO:0000269|PubMed:9452087}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. {ECO:0000269|PubMed:11992258}.
    相似的序列: Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. {ECO:0000305}.; Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule:PRU00441}.; Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule:PRU00434}.
    General information above from UniProt

    ABCD1 别称

    ALD,AMN,ALDP,ABC42, [homo-sapiens]
    Ald,ALDP,Aldgh, [mus-musculus]

    ABCD1 相关文献

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