Gene Symbol: Mocs1
Description: molybdenum cofactor synthesis 1
Alias: molybdenum cofactor biosynthesis protein 1
Lee H, Adham I, Schwarz G, Kneussel M, Sass J, Engel W, et al
. Molybdenum cofactor-deficient mice resemble the phenotype of human patients. Hum Mol Genet. 2002;11:3309-17 pubmed
..Most patients harbor mutations in the MOCS1 gene, whose murine homolog was disrupted by homologous recombination with a targeting vector...
Leimkuhler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, et al
. 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;117:565-70 pubmed
..The cofactor is the product of a complex biosynthetic pathway involving four different genes (MOCS1, MOCS2, MOCS3 and GEPH). This disorder is caused almost exclusively by mutations in the MOCS1 or MOCS2 genes...
Reiss J, Johnson J. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. Hum Mutat. 2003;21:569-76 pubmed
..side chain, synthesized by a complex pathway that requires the products of at least four different genes (MOCS1, MOCS2, MOCS3, and GEPH)...
Mendel R, Bittner F. Cell biology of molybdenum. Biochim Biophys Acta. 2006;1763:621-35 pubmed
..This final maturation step is catalyzed by a Moco-sulfurase enzyme, which mobilizes sulfur from l-cysteine in a pyridoxal phosphate-dependent manner as typical for cysteine desulfurases. ..
Kugler S, Hahnewald R, Garrido M, Reiss J. Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency. Am J Hum Genet. 2007;80:291-7 pubmed
..We have constructed a recombinant-expression cassette for the gene MOCS1, which, via alternative splicing, facilitates the expression of the proteins MOCS1A and MOCS1B, both of which are ..
Hänzelmann P, Hernandez H, Menzel C, Garcia Serres R, Huynh B, Johnson M, et al
. Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis. J Biol Chem. 2004;279:34721-32 pubmed
Reiss J, Bonin M, Schwegler H, Sass J, Garattini E, Wagner S, et al
. The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab. 2005;85:12-20 pubmed
..This neuronal damage appears to be triggered by elevated sulfite levels and is ameliorated in affected embryos by maternal clearance. ..
Reiss J, Cohen N, Dorche C, Mandel H, Mendel R, Stallmeyer B, et al
. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. Nat Genet. 1998;20:51-3 pubmed
..in the majority of MoCo-deficient patients that confirm the functional role of both ORFs in the corresponding gene MOCS1 (for 'molybdenum cofactor synthesis-step 1')...
Reiss J, Christensen E, Kurlemann G, Zabot M, Dorche C. Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. Hum Genet. 1998;103:639-44 pubmed
..It is an autosomal recessive disease and no therapy is known. Most patients harbour MOCS1 mutations, which are found in both open reading frames of this unusual gene encoding the first two enzymes ..