The human galactose-1-phosphate uridyltransferase gene
References (21)
Promoters for housekeeping genes
Trends Genet
(1986)Sample preparation from blood, cells, and other fluids
- et al.
Molecular studies on galactose-1-phosphate uridyltransferase from normal and mutant human subjects: An immunological approach
Ann. Hum. Genet.
(1983) - et al.
Screening λ gt recombinant clones by hybridization to single plaques in situ
Science
(1977) - et al.
Cyclosporin A promotes spontaneous outgrowth in vitro of Epstein-Barr virus-induced B-cell lines
Nature
(1981) - et al.
Prenatal diagnosis of galactosemia
Brit. Med. J.
(1974) - et al.
Galactose-1-phosphate uridyltransferase: Identification of histidine-164 and histidine-166 as critical residues by site-directed mutagenesis
Biochemistry
(1989) - et al.
Transferase deficiency galactosemia: A molecular analysis
Am. J. Hum. Genet.
(1990) - et al.
Sequence of a cDNA encoding human galactose-1-phosphate uridyltransferase
Mol. Biol. Med.
(1990) - et al.
Nucleotide sequences of the GAL E gene and the GAL T gene of E. coli
Nucleic Acids Res
(1986)
Cited by (126)
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele
2020, Molecular Genetics and Metabolism ReportsCitation Excerpt :In Argentina, estimated from newborn screening (NBS) data, it is approximately 1:50,000 [9]. GALT enzyme is encoded by the GALT gene, which is located on chromosome 9 in the p13 region, with approximately 4 Kb of DNA sequence arranged into 11 exons [10,11]. The active enzyme is an 88 kDa homodimer, formed by 379 amino acids for each monomer [12].
Disorders of galactose metabolism
2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1Biallelic GALM pathogenic variants cause a novel type of galactosemia
2019, Genetics in MedicineCitation Excerpt :The first step of the Leloir pathway involves epimerization between β- and α-D-galactose, which is catalyzed by GALM.7 The next three genes in the Leloir pathway (GALT [MIM 606999] [refs. 8,9], GALK1 [MIM 604313] [ref. 10], and GALE [MIM 606953] [refs. 11-13]) have been identified as being responsible for type I, II, and III galactosemia (GALT [MIM 230400], GALK1 [MIM 230200], and GALE [MIM 230350] deficiencies), respectively.1,7 In patients with galactosemia, appropriate care and precise diagnosis are essential to avoid complications.
Alterations of galactose metabolism caused by deficit of galactose-1-phosphate uridylyltransferase activity: An overview of galactosemia type I
2019, Molecular Nutrition CarbohydratesThe molecular basis of galactosemia — Past, present and future
2016, GeneCitation Excerpt :The coding sequence of the human gene was determined in 1988 (Reichardt and Berg, 1988) and the first disease-associated mutations identified in 1991 (Reichardt and Woo, 1991). Genomic sequencing revealed that human GALT is arranged into 11 exons (Leslie et al., 1992). A mutation which changes glutamine 188 to arginine (p.Q188R) was shown to be the most common cause of galactosemia in Caucasians (Reichardt et al., 1991; Leslie et al., 1992).
Disorders of Galactose Metabolism
2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition