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The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]
[中文简述(自动翻译):]  由该基因编码的蛋白质是一个双功能酶,从formiminoglutamate,组氨酸降解途径的代谢物,对叶酸池通道1 - 碳单元。在这个基因的突变与谷氨酸formiminotransferase缺乏有关。另外剪接转录变体也发现了这种基因。[由RefSeq的,2009年12月提供]
FTCD基因(以及对应的蛋白质)的细胞分布位置:
FTCD基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Glutamate formiminotransferase deficiency | 0.480271442 | 1 | 6 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Burkitt Lymphoma | 0.12 | 1 | 0 | CTD_human |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Cleft Lip | 0.002367032 | 1 | 0 | GAD |
Cleft Palate | 0.002367032 | 1 | 0 | GAD |
Spina Bifida | 0.002367032 | 1 | 0 | GAD |
Hepatitis, Autoimmune | 0.000814326 | 3 | 0 | BeFree |
Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
Nodule | 0.000271442 | 1 | 0 | BeFree |
Benign Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Focal Nodular Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
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