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(s) | HSD3B1 HSDB3, HSD3B |
| Entrez | 3283 |
| 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(s) | HSD3B2 |
| Entrez | 3284 |
| 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(s) | HSD3B7 |
| Entrez | 80270 |
| 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 involved in the synthesis of steroid hormones.
It is associated with congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
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