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    SRD5A3 steroid 5 alpha-reductase 3 [ Homo sapiens (human) ]

    Gene ID: 79644, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Analysis of the implication of steroid 5 alpha-reductase 3 on prognosis and immune microenvironment in Liver Hepatocellular Carcinoma.

    Analysis of the implication of steroid 5 alpha-reductase 3 on prognosis and immune microenvironment in Liver Hepatocellular Carcinoma.
    Lu Y, Liu Z, Zheng Y, Liu X, Liu X, Chen N, Mao K, Lin W., Free PMC Article

    10/10/2024
    Over-expression of SRD5A3 and its prognostic significance in breast cancer.

    Over-expression of SRD5A3 and its prognostic significance in breast cancer.
    Zhang YP, Na WT, Dai XQ, Li RF, Wang JX, Gao T, Zhang WB, Xiang C., Free PMC Article

    09/25/2021
    SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.

    SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
    Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S.

    08/7/2021
    Steroid 5 alpha-reductase 3 (SRD5A3) promotes tumor growth and predicts poor survival of human hepatocellular carcinoma (HCC).

    Steroid 5 alpha-reductase 3 (SRD5A3) promotes tumor growth and predicts poor survival of human hepatocellular carcinoma (HCC).
    Mai Q, Sheng D, Chen C, Gou Q, Chen M, Huang X, Yin H, Chen X, Chen Z., Free PMC Article

    05/15/2021
    Study revealed for the first time the presence of 5alpha-reductase-R3 mRNA in human hair.

    5α-Reductase isozymes and aromatase mRNA levels in plucked hair from young women with female pattern hair loss.
    Sánchez P, Serrano-Falcón C, Torres JM, Serrano S, Ortega E.

    08/11/2018
    Findings suggest that 5alpha-reductases (5-AR) isoenzymes could be explored as a therapeutic target for urothelial bladder cancer (UBC) with 5alpha-reductase inhibitors (5-ARI).

    The Genomic Alterations of 5α-Reductases and Their Inhibitor Finasteride's Effect in Bladder Cancer.
    Chen CC, Huang CP, Tsai YT, Hseih TF, Shyr CR.

    12/16/2017
    We present the features of five individuals (three children and two adults) with mutations in SRD5A3 focusing on the variable eye and skin involvement

    SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
    Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH., Free PMC Article

    10/21/2017
    Although 4-dione is the main source of 5alpha-dihydrotestosterone in human preadipocytes, production of this steroid by 5 alpha-reductase isoenzymes (SRD5A1, 2 and 3) mediates the inhibitory effect of both 4-dione and testosterone on preadipocyte differentiation.

    Characterization of 5α-reductase activity and isoenzymes in human abdominal adipose tissues.
    Fouad Mansour M, Pelletier M, Tchernof A.

    06/10/2017
    Mutations in the SRD5A3 gene may cause early-onset retinal dystrophy, a previously underdescribed feature of the SRD5A3-CDG disorder that is progressive and may lead to serious visual impairment.

    Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
    Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC, UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.

    04/29/2017
    the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variability of SRD5A3-CDG

    Adult phenotype and further phenotypic variability in SRD5A3-CDG.
    Kara B, Ayhan Ö, Gökçay G, Başboğaoğlu N, Tolun A., Free PMC Article

    03/22/2014
    Findings suggest that overexpression of 5alpha-reductase, through a higher inactivation of cortisol in the liver, could have a protective role in preserving hepatic sensitivity to insulin.

    Overexpression of hepatic 5α-reductase and 11β-hydroxysteroid dehydrogenase type 1 in visceral adipose tissue is associated with hyperinsulinemia in morbidly obese patients.
    Baudrand R, Domínguez JM, Carvajal CA, Riquelme A, Campino C, Macchiavello S, Bozinovic M, Morales M, Pizarro M, Solis N, Escalona A, Boza C, Arrese M, Fardella CE.

    01/14/2012
    Next generation sequencing identified a homozygous frameshift mutation (c.203dupC; p.Phe69LeufsX2) SRD5A3 as the disease-causing change in Kahrizi syndrome.

    Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
    Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A., Free PMC Article

    04/2/2011
    A novel syndrome is identified in families with cerebellar ataxia and congenital eye malformations due to steroid 5 alpha-reductase type 3 disorders of glycosylation.

    A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
    Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, Ng BG, Bergman JE, van Bokhoven H, Körner C, Babovic-Vuksanovic D, Willemsen MA, Gleeson JG, Lehle L, de Brouwer AP, Lefeber DJ., Free PMC Article

    12/4/2010
    Study of a large consanguineous Emirati family showed that loss of function mutations of the SRD5A3 gene cause a multisystemic syndrome with eye malformations, cerebellar vermis hypoplasia, and psychomotor delay.

    SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
    Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG., Free PMC Article

    08/23/2010
    Findings indicate that a novel type 3 5 alpha-steroid reductase, SRD5A3, is associated with DHT production and maintenance of androgen-androgen receptor-pathway activation in prostate cancer.

    Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.
    Uemura M, Tamura K, Chung S, Honma S, Okuyama A, Nakamura Y, Nakagawa H., Free PMC Article

    01/21/2010
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