A service of the
U.S. National Library of Medicine®
These sources were used to develop the Genetics Home Reference
Leimkühler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J. Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. Hum Genet. 2005 Oct;117(6):565-70. Epub 2005 Jul 14.
Leimkuhler S, Freuer A, Araujo JA, Rajagopalan KV, Mendel RR. Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. J Biol Chem. 2003 Jul 11;278(28):26127-34. Epub 2003 May 5.
Mendel RR. The molybdenum cofactor. J Biol Chem. 2013 May 10;288(19):13165-72. doi: 10.1074/jbc.R113.455311. Epub 2013 Mar 28. Review.
MOLYBDENUM COFACTOR SYNTHESIS GENE
Reiss J, Johnson JL. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. Hum Mutat. 2003 Jun;21(6):569-76. Review.
: March 2014
: October 5, 2015
Lister Hill National Center for Biomedical
U.S. National Library of
National Institutes of
Department of Health & Human
Freedom of Information
Indicates a page outside Genetics Home Reference.
Links to web sites outside the Federal Government do not constitute an endorsement.
Selection Criteria for Web Links
This site complies with the
for trustworthy health information: