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The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的蛋白是ATP结合盒(ABC)转运超家族中的一员。 ABC蛋白质跨越预算外内和细胞膜输送各种分子。 ABC基因被分为七个不同亚科(ABC1,MDR / TAP,MRP,ALD,OABP,GCN20,白色)。这种蛋白质是ALD亚科,其涉及的脂肪酸和/或脂肪酰基辅酶A中的细胞器的过氧化物酶体进口的一个成员。所有已知的过氧化物酶ABC转运是需要一个伙伴半转运分子形成功能同二聚体或异二聚体转运一半转运。此过氧化物酶体膜蛋白的功能是未知的。然而,据推测,这可能为另一个过氧化物酶ABC转运异源二聚体发挥作用,因此,可能会修改肾上腺脑白质表型。它也可起到过氧化物酶体生物合成的过程中发挥作用。选择性剪接的结果在至少两个不同的转录物变体,其中之一是蛋白质编码和其中一个可能不是蛋白质编码。 [由RefSeq的,2008年7月提供]
ABCD4基因(以及对应的蛋白质)的细胞分布位置:
ABCD4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 0.36 | 1 | 2 | CLINVAR_ORPHANET_UNIPROT |
Colorectal Neoplasms | 0.12 | 1 | 0 | CTD_human |
Inborn Errors of Metabolism | 0.12 | 1 | 0 | CTD_human |
Vitamin B 12 Deficiency | 0.12 | 1 | 0 | CTD_human |
Disease Progression | 0.12 | 1 | 0 | CTD_human |
Adrenoleukodystrophy | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Adrenomyeloneuropathy | 0.000271442 | 1 | 0 | BeFree |
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