Citations for
1CDG1Q, SRD5A3
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.
Cell 142(2):203-17. Epub 2010 Jul 15. 2010
2SRD5A3
SRD5A3: A surprising role in glycosylation.
Stiles AR, Russell DW.
Cell 142(2):196-8.PMID: 20655462 2010
3CDG1Q, MRCCK, SRD5A3
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.
Eur J Hum Genet ur J Hum Genet. 2010 Aug 11. [Epub ahead of print]PMID: 20700148 2010
4CDG1Q, SRD5A3
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.
Brain 133(11):3210-20. Epub 2010 Sep 17.PMID: 20852264 2010
5SRD5A3
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.
Cancer Sci 99(1):81-6. Epub 2007 Nov 6. 2008