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This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
[中文简述(自动翻译):]  这个基因编码在于把从蛋氨酸衍生为半胱氨酸胱硫醚反式硫化途径的胞质酶。在肝脏谷胱甘肽合成取决于半胱氨酸的可用性。突变这个基因导致cystathioninuria。在三个转录本基因导致选择性剪接变异体编码不同亚型。 [由RefSeq的,2010年6月提供]
CTH基因(以及对应的蛋白质)的细胞分布位置:
CTH基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cystathioninuria | 0.440814326 | 4 | 3 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
Gamma-cystathionase deficiency | 0.240814326 | 3 | 2 | BeFree_CTD_human_ORPHANET |
Cataract | 0.08 | 1 | 0 | RGD |
Malignant neoplasm of urinary bladder | 0.005005506 | 2 | 0 | BeFree_GAD |
Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
Cleft Lip | 0.002367032 | 1 | 0 | GAD |
Cleft Palate | 0.002367032 | 1 | 0 | GAD |
Female infertility | 0.002367032 | 1 | 0 | GAD |
Insulin Resistance | 0.002367032 | 1 | 1 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Spina Bifida | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of lung | 0.002367032 | 1 | 0 | GAD |
Fabry Disease | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Respiratory Syncytial Virus Infections | 0.000271442 | 1 | 0 | BeFree |
Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Renal ischaemia | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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