3-beta-HSD
From Wikipedia, the free encyclopedia
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hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
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| Identifiers | |
| Symbol | HSD3B1 |
| Alt. Symbols | HSDB3, HSD3B |
| Entrez | 3283 |
| HUGO | 5217 |
| OMIM | 109715 |
| RefSeq | NM_000862 |
| UniProt | P14060 |
| Other data | |
| EC number | 1.1.1.145 |
| Locus | Chr. 1 p13-p11 |
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hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
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| Identifiers | |
| Symbol | HSD3B2 |
| Entrez | 3284 |
| HUGO | 5218 |
| OMIM | 201810 |
| RefSeq | NM_000198 |
| UniProt | P26439 |
| Other data | |
| EC number | 1.1.1.145 |
| Locus | Chr. 1 p13.1 |
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hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
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| Identifiers | |
| Symbol | HSD3B7 |
| Entrez | 80270 |
| HUGO | 18324 |
| OMIM | 607764 |
| RefSeq | NM_025193 |
| UniProt | Q9H2F3 |
| Other data | |
| Locus | Chr. 16 p11.2-12 |
3-beta-HSD (or 3-beta-hydroxysteroid dehydrogenase-isomerase) is an enzyme which catalyses the synthesis of progesterone from pregnenolone, 17-hydroxyprogesterone from 17-hydroxypregnenolone, and androstenedione from dehydroepiandrosterone in the adrenal gland. It is the only enzyme in the adrenal steroidogenic pathway that is not a member of the Cytochrome P450 family.
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[edit] Pathway
[edit] Clinical significance
It is associated with congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
[edit] References
- IUBMB entry for 1.1.1.145
- BRENDA references for 1.1.1.145 (Recommended.)
- PubMed references for 1.1.1.145
- PubMed Central references for 1.1.1.145
- Google Scholar references for 1.1.1.145
[edit] External links
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