Galactose-1-Phosphate Uridylyltransferase (GALT)

UDP-glucose--hexose-1-phosphate uridylyltransferase

SPN	O686
HGNC	4135
MGI	95638
PubMed	4606575
RGD	1306483
UniProt	P07902
Wiki	GALT

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined.This 16-kb transcription unit contains 2 promoters (the first one constitutive, and the second, 8 kb downstream, highly regulated) and 2 cleavage/polyadenylation signals separated by 12 kb. The promoter from the GALT gene yields 2 mRNAs, a 1.4-kb mRNA encoding GALT and a 3-kb fusion mRNA when the first poly(A) site is spliced out and the second poly(A) site is used.

Reference

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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"Genetic basis of galactosemia."
Hum. Mutat. 1:190-196(1992) [PubMed] [Europe PMC] [Abstract]

"Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene."
Hum. Mutat. 13:417-430(1999) [PubMed] [Europe PMC] [Abstract]

"Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene."
Hum. Mutat. 33:1107-1115(2012) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase."
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"Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase."
Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991) [PubMed] [Europe PMC] [Abstract]

Erratum
Proc. Natl. Acad. Sci. U.S.A. 88:7457-7457(1991)

"Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase."
Biochemistry 31:5430-5433(1992) [PubMed] [Europe PMC] [Abstract]

"Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia."
Genomics 12:596-600(1992) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of the H319Q galactosemia mutation."
Hum. Mol. Genet. 2:325-326(1993) [PubMed] [Europe PMC] [Abstract]

"On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT)."
Hum. Genet. 93:167-169(1994) [PubMed] [Europe PMC] [Abstract]

"Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes."
Am. J. Hum. Genet. 56:630-639(1995) [PubMed] [Europe PMC] [Abstract]

"Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family."
Am. J. Hum. Genet. 56:640-646(1995) [PubMed] [Europe PMC] [Abstract]

"Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants."
J. Inherit. Metab. Dis. 18:567-576(1995) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of galactosemia (type 1) mutations in Japanese."
Hum. Mutat. 6:36-43(1995) [PubMed] [Europe PMC] [Abstract]

"Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia."
Eur. J. Pediatr. 155:393-397(1996) [PubMed] [Europe PMC] [Abstract]

"Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency."
Hum. Mutat. 8:369-372(1996) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle."
J. Neurol. 243:102-103(1996) [PubMed] [Europe PMC] [Abstract]

"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis."
Hum. Mutat. 10:49-57(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y."
Hum. Mutat. 13:339-339(1999) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis in newborns from Texas affected with galactosemia."
Hum. Mutat. 19:82-83(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test."
Pediatr. Res. 51:511-516(2002) [PubMed] [Europe PMC] [Abstract]

"Identification of novel mutations in classical galactosemia."
Hum. Mutat. 25:502-502(2005) [PubMed] [Europe PMC] [Abstract]

"Mutational spectrum of classical galactosaemia in Spain and Portugal."
J. Inherit. Metab. Dis. 29:739-742(2006) [PubMed] [Europe PMC] [Abstract]

"Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene."
J. Inherit. Metab. Dis. 30:818-818(2007) [PubMed] [Europe PMC] [Abstract]

"Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia."
J. Inherit. Metab. Dis. 31:S333-S337(2008) [PubMed] [Europe PMC] [Abstract]

"Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications."
Clin. Chim. Acta 414:191-196(2012) [PubMed] [Europe PMC] [Abstract]

"Functional and structural impact of the most prevalent missense mutations in classic galactosemia."
Mol. Genet. Genomic Med. 2:484-496(2014) [PubMed] [Europe PMC] [Abstract]

"Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene."
Gene 559:112-118(2015) [PubMed] [Europe PMC] [Abstract]