KEGG   VARIANT: 55034v1
Entry
55034v1                      Variant                               
Name
MOCOS deficiency
Type
Loss of function
Gene
MOCOS  molybdenum cofactor sulfurase [KO:K15631]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613274
Network
nt06025  Molybdenum cofactor biosynthesis
Disease
H00192  Xanthinuria
Reference
PMID:11302742
  Authors
Ichida K, Matsumura T, Sakuma R, Hosoya T, Nishino T
  Title
Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.
  Journal
Biochem Biophys Res Commun 282:1194-200 (2001)
DOI:10.1006/bbrc.2001.4719
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