KEGG   NETWORK: N00850
Entry
N00850                      Network                                

Name
GALK1 deficiency in galactose degradation
Definition
Gal -- GALM >> GALK1*
  Expanded
C00124 -- 130589 >> 2584v1
Class
nt06023 Galactose degradation
Type
Variant
Disease
H00070  Galactosemia
H02009  Galactokinase deficiency
Gene
130589  GALM; galactose mutarotase
2584  GALK1; galactokinase 1
Variant
2584v1 (GALK1*)  GALK1 deficiency
Metabolite
C00124  D-Galactose
Reference
PMID:7670469
  Authors
Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ
  Title
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
  Journal
Nat Genet 10:307-12 (1995)
DOI:10.1038/ng0795-307
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