【佳学基因检测】ABCD2基因测试出突变怎么办？

基因检测的序列名称：

ABCD2

人体基因序列变化与疾病表征数据库中的基因代码：

225

人体基因序列数据库中国际交流名称全称

ATP binding cassette subfamily D member 2

中国数据库中基因全称：

ATP结合盒亚家族D成员2

基因检测报告英文版基因简介

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]

基因突变所影响的基因信息

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蛋白跨细胞外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，白色）。该蛋白是ALD亚家族的成员，其参与细胞器中脂肪酸和/或脂肪酰基辅酶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，其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。该过氧化物酶体膜蛋白的功能未知。然而，据推测该蛋白起着ABCD1和/或其他过氧化物酶体ABCು୔

国际国内该碱基因序列的其他英语文字母简称：

ABC39, ALDL1, ALDR, ALDRP, hALDR

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第12号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：39945022；结束位置坐标为：40013843。该基因序列在GRCh38版本中的起始位置坐标为：39530966；结束位置坐标为：39651333。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Transporters/Primary Active Transporters