KEGG   VARIANT: 4337v1
Entry
4337v1                      Variant                                
Name
MOCS1 deficiency
Type
Loss of function
Gene
MOCS1  molybdenum cofactor synthesis 1 [KO:K20967]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603707
Network
nt06025  Molybdenum cofactor biosynthesis
Disease
H02311  Molybdenum cofactor deficiency
Drug target
Fosdenopterin (DG03102): D11779 D11780<US>
Reference
PMID:9921896
  Authors
Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C
  Title
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
  Journal
Hum Genet 103:639-44 (1998)
DOI:10.1007/s004390050884
LinkDB

DBGET integrated database retrieval system