KEGG   VARIANT: 1491v1
Entry
1491v1                      Variant                                
Name
CTH deficiency
Type
Loss of function
Gene
CTH  cystathionine gamma-lyase [KO:K01758]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607657
Network
nt06030  Methionine metabolism
Disease
H00182  Cystathioninuria
Reference
PMID:12574942
  Authors
Wang J, Hegele RA
  Title
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).
  Journal
Hum Genet 112:404-8 (2003)
DOI:10.1007/s00439-003-0906-8
LinkDB

DBGET integrated database retrieval system