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    HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 [ Homo sapiens (human) ]

    Gene ID: 51144, updated on 19-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Genetic variants in CYP2B6 and HSD17B12 associated with risk of squamous cell carcinoma of the head and neck.

    Genetic variants in CYP2B6 and HSD17B12 associated with risk of squamous cell carcinoma of the head and neck.
    Liu H, Li G, Sturgis EM, Shete S, Dahlstrom KR, Du M, Amos CI, Christiani DC, Lazarus P, Wei Q., Free PMC Article

    06/25/2022
    Association of genetic polymorphisms with local steroid metabolism in human benign breasts.

    Association of genetic polymorphisms with local steroid metabolism in human benign breasts.
    Lee O, Fought AJ, Shidfar A, Heinz RE, Kmiecik TE, Gann PH, Khan SA, Chatterton RT.

    03/5/2022
    Functional genetic variant of HSD17B12 in the fatty acid biosynthesis pathway predicts the outcome of colorectal cancer.

    Functional genetic variant of HSD17B12 in the fatty acid biosynthesis pathway predicts the outcome of colorectal cancer.
    Lin Y, Meng Y, Zhang J, Ma L, Jiang L, Zhang Y, Yuan M, Ren A, Zhu W, Li S, Shu Y, Du M, Zhu L., Free PMC Article

    05/22/2021
    An Integrative Phenotype-Genotype Approach Using Phenotypic Characteristics from the UAE National Diabetes Study Identifies HSD17B12 as a Candidate Gene for Obesity and Type 2 Diabetes.

    An Integrative Phenotype-Genotype Approach Using Phenotypic Characteristics from the UAE National Diabetes Study Identifies HSD17B12 as a Candidate Gene for Obesity and Type 2 Diabetes.
    Hachim MY, Aljaibeji H, Hamoudi RA, Hachim IY, Elemam NM, Mohammed AK, Salehi A, Taneera J, Sulaiman N., Free PMC Article

    03/27/2021
    Very-long-chain fatty acid metabolic capacity of 17-beta-hydroxysteroid dehydrogenase type 12 (HSD17B12) promotes replication of hepatitis C virus and related flaviviruses.

    Very-long-chain fatty acid metabolic capacity of 17-beta-hydroxysteroid dehydrogenase type 12 (HSD17B12) promotes replication of hepatitis C virus and related flaviviruses.
    Mohamed B, Mazeaud C, Baril M, Poirier D, Sow AA, Chatel-Chaix L, Titorenko V, Lamarre D., Free PMC Article

    11/21/2020
    Silencing of hydroxysteroid 17-beta dehydrogenase 12 essentially catalyzes the 3-ketoacyl-CoA reduction step in long-chain fatty acids production, modulates proliferation and migration of breast cancer cells in a cell line-dependent manner.

    Impact of 17β-HSD12, the 3-ketoacyl-CoA reductase of long-chain fatty acid synthesis, on breast cancer cell proliferation and migration.
    Tsachaki M, Strauss P, Dunkel A, Navrátilová H, Mladenovic N, Odermatt A., Free PMC Article

    04/18/2020
    Study identified two independent SNPs of ELOVL2 rs3734398 T>C and HSD17B12 rs11037684 A>G that predicted cutaneous melanoma disease-specific survival. The ELOVL2 rs3734398 variant CC genotype was found to be associated with a significantly increased mRNA expression level.

    Genetic variants in ELOVL2 and HSD17B12 predict melanoma-specific survival.
    Dai W, Liu H, Xu X, Ge J, Luo S, Zhu D, Amos CI, Fang S, Lee JE, Li X, Nan H, Li C, Wei Q., Free PMC Article

    02/22/2020
    Among lung-expressing enzymes only HSD17beta12 exhibited activity against tobacco-specific carcinogen nitrosamine NNK. siRNA knock-down of HSD17beta12 resulted in significant decreases in (R)-NNAL-formation activity in HEK293 cells. These data suggest that both cytosolic and microsomal enzymes are active against NNK and that HSD17beta12 is the major active microsomal reductase that contributes to (R)-NNAL formation in ...

    Carbonyl reduction of NNK by recombinant human lung enzymes: identification of HSD17β12 as the reductase important in (R)-NNAL formation in human lung.
    Ashmore JH, Luo S, Watson CJW, Lazarus P., Free PMC Article

    11/23/2019
    The expression of HSD17B12 increased along with the severity of ovarian cancer, and the expression mimicked COX-2 expression and intensity. This further suggests the involvement of HSD17B12 in AA production, and its coexpression with COX-2 indicates a role for the enzyme in the increased prostaglandin production during ovarian cancer progression.

    The Expression of HSD17B12 Is Associated with COX-2 Expression and Is Increased in High-Grade Epithelial Ovarian Cancer.
    Kemiläinen H, Huhtinen K, Auranen A, Carpén O, Strauss L, Poutanen M.

    03/24/2018
    Significant associations have been found between CpG sites and patient sex, including DNA methylation in CASP6, a gene that may respond to estradiol treatment, and in HSD17B12, which encodes a sex steroid hormone.

    Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans.
    Carless MA, Kulkarni H, Kos MZ, Charlesworth J, Peralta JM, Göring HH, Curran JE, Almasy L, Dyer TD, Comuzzie AG, Mahaney MC, Blangero J., Free PMC Article

    06/7/2014
    These evidences were suggestive of a 46,XY DSD due to 17betaHSD3 deficiency. An homozygous mutation (IVS3 -1 G>C or c.326-1G>C) of the 17betaHSD3 gene was discovered.

    The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature.
    Galdiero M, Vitale P, Simeoli C, Afeltra L, Melis D, Alviggi C, Cariati F, Lo Calzo F, Di Somma C, Colao A, Pivonello R.

    08/10/2013
    HSD17B12 overexpression is shown to be a marker of poor survival in patients with ovarian cancer; expression in the tumor and function of this enzyme facilitates ovarian cancer progression.

    17β Hydroxysteroid dehydrogenase type 12 (HSD17B12) is a marker of poor prognosis in ovarian carcinoma.
    Szajnik M, Szczepanski MJ, Elishaev E, Visus C, Lenzner D, Zabel M, Glura M, DeLeo AB, Whiteside TL., Free PMC Article

    03/2/2013
    High HSD17B12 expression is associated with neoplasms.

    Identification of Hydroxysteroid (17β) dehydrogenase type 12 (HSD17B12) as a CD8+ T-cell-defined human tumor antigen of human carcinomas.
    Visus C, Ito D, Dhir R, Szczepanski MJ, Chang YJ, Latimer JJ, Grant SG, DeLeo AB., Free PMC Article

    08/27/2011
    Observational study of gene-disease association. (HuGE Navigator)

    An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M, Tokunaga K.

    09/15/2010
    There is no difference in catalytic properties between variants of 17beta-HSD types 7 and 12 and wild-type enzymes, while variants p.Glu77Gly and p.Lys183Arg in 17beta-HSD type 5 showed a slightly decreased activity.

    Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer.
    Plourde M, Ferland A, Soucy P, Hamdi Y, Tranchant M, Durocher F, Sinilnikova O, Luu The V, INHERIT BRCAs, Simard J.

    01/21/2010
    SREBP-1 represents one of the transcriptional regulators of human 17beta-HSD12.

    Transcriptional regulation of 17beta-hydroxysteroid dehydrogenase type 12 by SREBP-1.
    Nagasaki S, Miki Y, Akahira J, Suzuki T, Sasano H.

    01/21/2010
    determined the activity and expression levels of known estrogenic 17beta-HSDs, namely types 1, 7 and 12 17beta-HSD in preadipocytes before and after differentiation into mature adipocytes

    Differential estrogenic 17beta-hydroxysteroid dehydrogenase activity and type 12 17beta-hydroxysteroid dehydrogenase expression levels in preadipocytes and differentiated adipocytes.
    Bellemare V, Laberge P, Noël S, Tchernof A, Luu-The V.

    01/21/2010
    17beta-HSD12 is not \related to intratumoral estradiol biosynthesis in human breast carcinoma, but is correlated with production of very long chain fatty acids and tumor progresssion.

    17Beta-hydroxysteroid dehydrogenase type 12 in human breast carcinoma: a prognostic factor via potential regulation of fatty acid synthesis.
    Nagasaki S, Suzuki T, Miki Y, Akahira J, Kitada K, Ishida T, Handa H, Ohuchi N, Sasano H.

    01/21/2010
    Location of 17beta-hydroxysteroid dehydrogenase type 12 through the human body.

    Systemic distribution and tissue localizations of human 17beta-hydroxysteroid dehydrogenase type 12.
    Sakurai N, Miki Y, Suzuki T, Watanabe K, Narita T, Ando K, Yung TM, Aoki D, Sasano H, Handa H.

    01/21/2010
    17beta-HSD12 is the major estrogenic 17beta-HSD responsible for the conversion of E1 to E2 in women.

    Characterization of type 12 17beta-hydroxysteroid dehydrogenase, an isoform of type 3 17beta-hydroxysteroid dehydrogenase responsible for estradiol formation in women.
    Luu-The V, Tremblay P, Labrie F.

    01/21/2010
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