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Gene Symbol |
AKR1C2 |
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Aliases |
AKR1C-pseudo, BABP, DD, DD-2, DD/BABP, DD2, DDH2, HAKRD, HBAB, MCDR2, SRXY8, TDD |
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Entrez Gene ID |
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Gene Name |
Aldo-keto reductase family 1 member C2 |
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Chromosomal Location |
10p15.1 |
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HGNC ID |
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Summary |
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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Protein Name |
Aldo-keto reductase family 1 member C2, 3-alpha-HSD3, chlordecone reductase homolog HAKRD, dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III, pseudo-chlordecone reductase, testicular 17,20-desmolase deficiency, trans-1,2-dihydrobenzene-1,2-diol dehydrogenase, type II dihydrodiol dehydrogenase |
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Function |
Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability. |
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UniProt |
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PDB |
1IHI, 1J96, 1XJB, 2HDJ, 2IPJ, 4JQ1, 4JQ2, 4JQ3, 4JQ4, 4JQA, 4JTQ, 4JTR, 4L1W, 4L1X, 4XO6, 4XO7 |
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Pfam |
Pfam Accession |
Pfam ID |
PF00248 |
Aldo_ket_red |
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Interactions |
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STRING |
MINT |
IntAct |
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P30711 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Endocrine System Diseases |
Male Pseudohermaphroditism |
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Intersex Conditions |
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Ambiguous Genitalia |
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Disorders of Sex Development |
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Sex Differentiation Disorders |
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Hermaphroditism |
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Pseudohermaphroditism |
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PCOS |
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Musculoskeletal Diseases |
Arthritis |
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Osteoarthrosis Deformans |
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Neoplasms |
Ovarian Cancer |
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Liver Cancer |
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Reproductive disorders |
Endometriosis |
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Endometrioma |
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Skin and Connective Tissue Diseases |
Dermatitis |
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References |
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Wang Lihua, Li Shengxian, Zhao Aimin, Tao Tao, Mao Xiuying, Zhang Ping, Liu Wei |
Department of Endocrinology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China. |
J Steroid Biochem Mol Biol. 2012 Oct;132(1-2):120-6. doi: |
Abstract
Modulation of sex steroid pre-receptor in adipose tissue is important for the development of metabolic diseases, but its roles in the pathogenesis of polycystic ovary syndrome (PCOS) has not been fully characterized. Herein we compared the expression of key sex steroid converting enzymes in the subcutaneous adipose tissue (SAT) between patients with PCOS and the matched controls. Most of the sex steroid converting enzymes were highly expressed in the SAT, except 17alpha-hydroxylase (CYP17A1). Compared with the controls, PCOS patients showed significantly higher levels of 3beta-hydroxysteroid dehydrogenase1-2 (3beta-HSD1-2), aldo-keto reductase 1C 1-3 (AKR1C1-3) and leptin, but lower level of P450 aromatase and 5alpha-reductase 1. Interestingly, leptin was positively correlated to AKR1C2 expression and negatively to 5alpha-reductase1 as well as peroxisome proliferator-activated receptor gamma (PPARgamma). In summary, the expression of enzymes synthesizing testosterone and enzymes inactivating DHT and progesterone was higher in SAT of PCOS patients compared to controls. Correlation analysis indicated that increased leptin expression may be negatively related to local DHT level. These data suggested that sex steroid converting enzymes expression was different in SAT of PCOS patients that might contribute to abnormal testosterone and leptin level of PCOS patients. |
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