Gene: galactokinase 1; GALK1


Gene Symbol: GALK1
OMIM: 604313
Chromosome location: 17q25.1

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Galactokinase deficiency with cataracts || c.82C>A

Phenotype:    Galactokinase deficiency with cataracts
Dna Change:    c.82C>A
Protein Change:    p.Pro28Thr
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 1
Transcript:    NM_000154.1

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
Bosnia-HerzegovinaNANA19 patients/13 familiesNAHennermann JB et al., 2011Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Mönch E, Klein J, . Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.. J. Inherit. Metab. Dis.. 2011; 34(2):399-407
SpainGypsyNAcarrier rate of 1.9%750 yearsHunter M et al., 2002Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV, . The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.. Pediatr. Res.. 2002; 51(5):602-6

References

Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Mönch E, Klein J, Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.J. Inherit. Metab. Dis.. 2011; 34(2):399-407

Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV, The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.Pediatr. Res.. 2002; 51(5):602-6