ABCD2 - ATP binding cassette subfamily D member 2 Gene

中文名称：ATP 结合盒亚家族 D 成员 2

种属: Homo sapiens

同用名: ALDR; ABC39; ALDL1; ALDRP; hALDR

关于 ABCD2

功能概要

由该基因编码的蛋白质是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族 (ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White) 。这种蛋白质是 ALD 亚家族的成员，它参与细胞器中脂肪酸和/或脂酰辅酶 A 的过氧化物酶体输入。所有已知的过氧化物酶体 ABC 转运蛋白都是半转运蛋白，需要伴侣半转运蛋白分子来形成功能性同二聚体或异二聚体转运蛋白。这种过氧化物酶体膜蛋白的功能未知；然而，推测该蛋白质作为 ABCD1 和/或其他过氧化物酶体 ABC 转运蛋白的二聚化伙伴发挥作用。在患有肾上腺脑白质营养不良症 (一种严重的脱髓鞘疾病) 的患者中观察到了该基因的突变。该基因已被确定为修饰基因的候选基因，解释了肾上腺脑白质营养不良表型之间的极端变异。该基因也是 Zellweger 综合征补体组的候选基因，Zellweger 综合征是一种过氧化物酶体生物发生的遗传异质性疾病。[RefSeq 提供，2008 年 7 月]

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 this protein is speculated to function as a dimerization partner of ABCD1 and/or Other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]