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HSD11B1
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs1406308329 | |||
| rs754712904 | |||
| rs1037600018 | |||
| rs184284764 | |||
| rs41283132 | |||
| rs146919819 | |||
| rs202219444 | |||
| rs35932418 | |||
| rs116045609 | |||
| rs142209530 | |||
| rs114263127 | |||
| rs1181026505 | |||
| rs1196806690 | |||
| rs1384822140 | |||
| rs143051729 | |||
| rs1444623656 | |||
| rs149425701 | |||
| rs187400139 | |||
| rs565444143 | |||
| rs747033850 |
Find on This Page
Summary
The gene codes for a protein, hydroxysteroid 11-beta dehydrogenase 1. Mutations cause cortisone reductase deficiency [R].
Protein names
Found in These Blog Articles
GHR Function
Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol.
More Information
From NCBI Gene: Cortisone reductase deficiency 2From UniProt: Cortisone reductase deficiency (CRD): In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS). [MIM:604931]
From NCBI Gene: The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011] From UniProt: Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol.
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