Gene: GALT

Alternate names for this Gene: -

Gene Summary: 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. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: galactose-1-phosphate uridylyltransferase

Type of Gene: protein-coding

rs2070074 in GALT gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1057517415 in GALT gene and Classical galactosemia PMID 15633893 2004 Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations.

PMID 1897530 1991 Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

PMID 8499924 1993 Molecular characterization of the H319Q galactosemia mutation.

PMID 17876724 2007 Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

PMID 8112740 1994 On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

PMID 25614870 2014 Functional and structural impact of the most prevalent missense mutations in classic galactosemia.

PMID 7887416 1995 Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

PMID 15841485 2005 Identification of novel mutations in classical galactosemia.

PMID 18956253 2008 Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

PMID 22475884 2012 Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

PMID 2011574 1991 Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

PMID 17041746 2006 Mutational spectrum of classical galactosaemia in Spain and Portugal.

PMID 8956044 1996 Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

PMID 27005423 2016 Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

PMID 25592817 2015 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.

PMID 23022339 2012 Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.

PMID 22461411 2012 Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

PMID 9222760 1997 Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

PMID 8741038 1996 Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.

PMID 1610789 1992 Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

PMID 1427861 1992 The human galactose-1-phosphate uridyltransferase gene.

PMID 1373122 1992 Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

PMID 15775761 2005 Neonatal screening, clinical features and genetic testing for galactosemia.

PMID 11479743 2001 Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

PMID 19224951 2009 Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

PMID 11286503 2001 Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

PMID 22944367 2012 Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

PMID 8598637 1995 Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

PMID 20008339 2010 Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.

PMID 11152465 2001 Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.

PMID 10384398 1999 Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.

PMID 24973740 2014 Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.

PMID 17884932 2007 Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.

PMID 11754113 2002 Molecular analysis in newborns from Texas affected with galactosemia.

PMID 17079880 2006 Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.

PMID 19375122 2009 An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.

PMID 25124065 2014 Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.

PMID 24045215 2013 Mutational analysis of the GALT gene in Filipino patients.

PMID 23749220 2014 A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

PMID 10408771 1999 Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

PMID 10399107 1999 Molecular characterization of Polish patients with classical galactosaemia.

PMID 7550229 1995 Molecular characterization of galactosemia (type 1) mutations in Japanese.

PMID 1766867 1991 Molecular analysis of 11 galactosemia patients.

PMID 28644047 2017 Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.

PMID 15172000 2004 Extended [13C]galactose oxidation studies in patients with galactosemia.

PMID 12595586 2003 Verbal dyspraxia and galactosemia.

PMID 27308838 2017 Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

PMID 22743281 2012 N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 27363831 2017 Gastrointestinal Health in Classic Galactosemia.

PMID 14728988 2004 The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.

PMID 11261429 2001 The molecular biology of galactosemia.

PMID 11397328 2005 Outcomes analysis of verbal dyspraxia in classic galactosemia.

PMID 22870861 2013 Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.

PMID 10960497 2000 Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.

PMID 17876724 2007 Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L).

PMID 27176039 2016 Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.

PMID 28065439 2017 Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.

PMID 8551426 1996 We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia.

PMID 7887417 1995 Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.

PMID 10070616 1999 The molecular basis of transferase galactosaemia in South African negroids.

PMID 22729817 2013 Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion.

PMID 19418241 2009 Negative screening tests in classical galactosaemia caused by S135L homozygosity.

PMID 12350230 2002 The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa.

PMID 18813948 2009 Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

PMID 12208137 2002 Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase.

PMID 25268296 2014 Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.

PMID 7671959 1995 A molecular approach to galactosemia.

PMID 20213376 2010 Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.

PMID 23924834 2013 Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

PMID 11596650 2001 Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts.

PMID 23583749 2013 Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.

PMID 9635294 1998 Molecular and biochemical basis of galactosemia.

PMID 10535394 1999 Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.

PMID 10811638 2000 Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase.

PMID 8198125 1994 A common mutation associated with the Duarte galactosemia allele.

PMID 25814382 2015 Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.

PMID 17486650 2007 Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

PMID 10649501 2000 Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).

PMID 20547145 2010 Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.

PMID 18210213 2008 A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.

PMID 11754113 2002 Two unusual genotypes were observed in 2 patients homozygous for the Duarte-2 N314D allele and heterozygous for a novel mutation (Q207X- N314D/N314D in a classic galactosemia and T23A- N314D/N314D in a Duarte-2 case).

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 22693313 2011 Problems with the new born screen for galactosaemia.

PMID 16540753 2006 Prevention of a molecular misdiagnosis in galactosemia.

PMID 8522334 1995 Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.

PMID 14518827 2003 Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects.

PMID 27629047 2016 Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

PMID 7550229 1995 In seven Japanese families (14 alleles for classic form and one allele for Duarte variant) with GALT deficiency, the R231H and 318A-->G mutations were found only on both alleles of the proband.

PMID 10573007 2000 Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.

PMID 25052314 2015 Functional correction by antisense therapy of a splicing mutation in the GALT gene.

PMID 17876724 2007 Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L).

PMID 17303100 2007 K285N is one of the most frequent classical galactosemia mutations in the Slovenian population.

PMID 8892021 1996 Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

PMID 19181333 2009 Outcomes of siblings with classical galactosemia.

PMID 18207281 2008 Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

PMID 8692963 1996 Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

PMID 7550229 1995 We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N314D and R333W mutations, previously found in Caucasians.

PMID 23430559 2013 Leptin levels in children and adults with classic galactosaemia.

PMID 17143577 2007 Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W.

PMID 20663501 2011 Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia.

PMID 9686364 1998 Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.

PMID 21779791 2012 The adult galactosemic phenotype.

PMID 23319291 2013 Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.

PMID 23690308 2013 Modifiers of ovarian function in girls and women with classic galactosemia.

PMID 22963887 2012 Detection of common mutations in the GALT gene through ARMS.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 17876724 2007 Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L).

PMID 19581158 2009 [Frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Hungarian population].

PMID 20100763 2010 Longitudinal assessment of intellectual achievement in patients with classical galactosemia.

PMID 30808388 2019 Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

PMID 21188552 2011 A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family.

PMID 17041746 2006 Mutation p.Q188R was found to be the most common molecular defect among caucasian classical galactosaemia patients.

PMID 10037750 1999 The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase.

PMID 9772178 1998 Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia.

PMID 8198125 1994 A prevalent mutation (Q188R) is known to cause classic galactosemia (G/G).

PMID 9396569 1997 Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy.

PMID 27603904 2016 Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

PMID 23418865 2013 Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.