Property Summary

NCBI Gene PubMed Count 23
Grant Count 19
R01 Count 18
Funding $2,040,471.93
PubMed Score 193.71
PubTator Score 29.09

Knowledge Summary

Patent

No data available

Expression

Gene RIF (4)

PMID Text
17158010 We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c.130C>T in cDNA of the MOCS2 gene from the infant.
16737835 There was undisturbed production of both transcripts, while Western blot analysis demonstrated that MOCS2B, the large subunit, is unstable in the absence of MOCS2A.
12754701 Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives
12732628 analysis of sites within MOCS2 where mutations cause molybdenum cofactor deficiency

AA Sequence

MVPLCQVEVLYFAKSAEITGVRSETISVPQEIKALQLWKEIETRHPGLADVRNQIIFAVRQEYVELGDQL      1 - 70
LVLQPGDEIAVIPPISGG                                                         71 - 88
//

Text Mined References (28)

PMID Year Title
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21269460 2011 Initial characterization of the human central proteome.
18650437 2008 A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis.
18491921 2008 The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17459099 2007 Site-directed mutagenesis of the active site loop of the rhodanese-like domain of the human molybdopterin synthase sulfurase MOCS3. Major differences in substrate specificity between eukaryotic and bacterial homologs.
17158010 2007 Molybdenum cofactor deficiency: clinical features in a Turkish patient.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
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