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This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基??因编码胆固醇生物合成的酶。所编码的蛋白质催化的lathosterol成7-脱氢的转换。在这种基因突变与lathosterolosis相关联。编码相同蛋白质可变剪接转录物变体已有描述。 [由RefSeq的,2008年7月提供]
SC5D基因(以及对应的蛋白质)的细胞分布位置:
SC5D基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Lathosterolosis | 0.560542884 | 4 | 3 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Liver diseases | 0.12 | 1 | 0 | CTD_human |
| Intellectual Disability | 0.12 | 1 | 0 | CTD_human |
| Rheumatoid Arthritis | 0.002367032 | 1 | 1 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
| Cleft Palate | 0.000271442 | 1 | 0 | BeFree |
| Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
| Micrognathism | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
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