Gene: GALK1
Alternate names for this Gene: GALK|GK1|HEL-S-19
Gene Summary: Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population.
Gene is located in Chromosome: 17
Location in Chromosome : 17q25.1
Description of this Gene: galactokinase 1
Type of Gene: protein-coding
rs104894572 in
GALK1 gene and
Deficiency of galactokinase
PMID 12694189 2003 Functional analysis of disease-causing mutations in human galactokinase.
PMID 11231902 2001 "A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, ""Osaka,"" in Asians."
PMID 10521295 1999 A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
PMID 10790206 2000 Novel mutations in 13 probands with galactokinase deficiency.
PMID 15024738 2004 Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
PMID 21290184 2011 Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
PMID 12647253 2003 [Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].
PMID 11978884 2002 The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
PMID 11978883 2002 An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
PMID 11139256 2001 Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
PMID 10570908 1999 Molecular characterization of galactokinase deficiency in Japanese patients.
PMID 20405025 2010 Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
PMID 11231902 2001 Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the "Osaka" variant) associated with an A198V mutation in three infants with mild GALK deficiency.