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This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2010]
[中文简述(自动翻译):]  此基因编码的TGF-β蛋白质家族的一个成员。所编码的蛋白质被分泌和发育过程中起着器官系统的左右不对称判定的作用。蛋白质也可起到的子宫内膜出血的作用。该基因突变与左,右轴畸形,特别是在心脏和肺部。某些类型的不育症已与该基因在子宫内膜的失调表达相关。这种蛋白质的代替处理可产生三种不同的产品。该基因是密切相关的这两个相关的家庭成员和相关的假。这个基因的交替拼接产生在多个转录变体。 [由RefSeq的,2010年2月提供]
LEFTY2基因(以及对应的蛋白质)的细胞分布位置:
LEFTY2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Situs ambiguus | 0.12 | 0 | 0 | ORPHANET |
Situs ambiguous | 0.12 | 0 | 0 | ORPHANET |
Left-Right Axis Malformations | 0.12 | 0 | 2 | CLINVAR |
Heterotaxy Syndrome | 0.12 | 1 | 0 | CTD_human |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Coronary heart disease | 0.000271442 | 1 | 1 | BeFree |
Patent ductus arteriosus | 0.000271442 | 1 | 0 | BeFree |
Endometriosis | 0.000271442 | 1 | 0 | BeFree |
Embryonal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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