Pub. Date : 2008 Jun
PMID : 19040066
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | OBJECTIVE: To investigate the molecular defects of CYP17A1 gene in a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test. | 17-ohd | cytochrome P450 family 17 subfamily A member 1 | Homo sapiens |
| 2 | OBJECTIVE: To investigate the molecular defects of CYP17A1 gene in a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test. | 17-ohd | cytochrome P450 family 17 subfamily A member 1 | Homo sapiens |
| 3 | CONCLUSION: 17-OHD in this family was caused by CYP17A1 mutation (TAC329AA); some hormonal response to ACTH stimulation was abnormal in carriers. | 17-ohd | cytochrome P450 family 17 subfamily A member 1 | Homo sapiens |