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In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]
[中文简述(自动翻译):]  在人类中,ATP结合盒(ABC)家族的跨膜转运至少有48个基因和7基因亚科。这个基因是ABC基因亚科A(ABCA)的成员。在ABCA家族内的基因通常编码几千氨基酸。像其它的ABC跨膜转运蛋白,这种蛋白有12个或更多个跨膜α-螺旋结构域可能安排,以形成具有多个底物结合位点的单个中央腔室中。它也被预测为有两个大的胞外域和两个核苷酸结合结构域是典型为ABCA蛋白。备选剪接变体已被描述,但它们的生物有效性还没有被证实。[通过的RefSeq,2009年03月提供]
ABCA13基因(以及对应的蛋白质)的细胞分布位置:
ABCA13基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Colorectal Neoplasms | 0.12 | 1 | 0 | CTD_human |
Disease Progression | 0.12 | 1 | 0 | CTD_human |
Bipolar Disorder | 0.002638474 | 1 | 0 | BeFree_GAD |
Mental Depression | 0.002638474 | 1 | 0 | BeFree_GAD |
Schizophrenia | 0.002638474 | 1 | 0 | BeFree_GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Cystadenocarcinoma, Serous | 0.000271442 | 1 | 0 | BeFree |
Ovarian Serous Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
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