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Gene Symbol |
DHRS9 |
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Aliases |
3-alpha-HSD, 3ALPHA-HSD, RDH-E2, RDH-TBE, RDH15, RDHL, RDHTBE, RETSDR8, SDR9C4 |
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Entrez Gene ID |
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Gene Name |
Dehydrogenase/reductase 9 |
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Chromosomal Location |
2q31.1 |
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HGNC ID |
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Summary |
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
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e!Ensembl
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| Protein Information |
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Protein Name |
Dehydrogenase/reductase SDR family member 9, 3-alpha hydroxysteroid dehydrogenase, NADP-dependent retinol dehydrogenase/reductase, dehydrogenase/reductase (SDR family) member 9, retinol dehydrogenase 15, retinol dehydrogenase homolog, short chain dehydrogenase/reductase family 9C member 4, short-chain dehydrogenase/reductase retSDR8, tracheobronchial epithelial cell-specific retinol dehydrogenase |
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Function |
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3-alpha-hydroxysteroid dehydrogenase that converts 3-alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone (PubMed:11294878, PubMed:29541409). Plays also a role in the biosynthesis of retinoic acid from retinaldehyde (PubMed:11304534, PubMed:12618084). Can utilize both NADH and NADPH |
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UniProt |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF00106 |
adh_short |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000389241 |
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Q9BPW9 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Neoplasms |
| Pancreatic Ductal Adenocarcinoma |
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| Squamous Cell Carcinoma |
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| Renal Cancer |
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| Nutritional and Metabolic Diseases |
| Obesity |
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| Skin and Connective Tissue Diseases |
| Alopecia |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS, Lipid and Steroid metabolism |
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Rotterdam Criteria |
Direct
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79 PCOs patients and 93 controls |
The results of qPCR showed that the expression of related genes were in accordance with the RNA-seq analysis results. |
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