De novo disruption of promoter and exon 1 of STAR gene reveals essential role for gonadal development
Cholesterol transport into the mitochondria is required for synthesis of the first steroid, pregnenolone. Cholesterol is transported by the steroidogenic acute regulatory protein (STAR), which acts at the outer mitochondrial membrane prior to its import. Mutations in the STAR protein result in lipoi...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2017-03-01
|
| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-16-0120 |