KEGG   NETWORK: N00891
Entry
N00891                      Network                                

Name
MOCOS deficiency in molybdenum cofactor biosynthesis
Definition
GTP -- MOCS1 -> cPMP -- MOCS2 >> GPHN -> Moco -- MOCOS*
  Expanded
C00044 -- 4337 -> C18239 -- 4338 >> 10243 -> C18237 -- 55034v1
Class
nt06025 Molybdenum cofactor biosynthesis
Type
Variant
Disease
H00192  Xanthinuria
Gene
4337  MOCS1; molybdenum cofactor synthesis 1
4338  MOCS2; molybdenum cofactor synthesis 2
10243  GPHN; gephyrin
55034  MOCOS; molybdenum cofactor sulfurase
Variant
55034v1 (MOCOS*)  MOCOS deficiency
Metabolite
C00044  GTP
C18239  Precursor Z
C18237  Molybdoenzyme molybdenum cofactor
Reference
  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
LinkDB

DBGET integrated database retrieval system