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Galactose-1-Phosphate Uridylyltransferase (GALT)

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UDP-glucose--hexose-1-phosphate uridylyltransferase

Galactose-1-Phosphate Uridylyltransferase (GALT)
CCC J067
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Galactose-1-Phosphate Uridylyltransferase (GALT) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Galactose-1-Phosphate Uridylyltransferase (GALT) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Galactose-1-Phosphate Uridylyltransferase (GALT) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Galactose-1-Phosphate Uridylyltransferase (GALT) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactose-1-Phosphate Uridylyltransferase (GALT) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Galactose-1-Phosphate Uridylyltransferase (GALT) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Galactose-1-Phosphate Uridylyltransferase (GALT) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Galactose-1-Phosphate Uridylyltransferase (GALT) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Galactose-1-Phosphate Uridylyltransferase (GALT) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactose-1-Phosphate Uridylyltransferase (GALT) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPJ067Ra01 Recombinant Galactose-1-Phosphate Uridylyltransferase (GALT) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAJ067Ra01 Polyclonal Antibody to Galactose-1-Phosphate Uridylyltransferase (GALT) WB; IHC; ICC; IP.
MAJ067Ra21 Monoclonal Antibody to Galactose-1-Phosphate Uridylyltransferase (GALT) WB; IHC; ICC; IP.
Assay Kits SEJ067Ra ELISA Kit for Galactose-1-Phosphate Uridylyltransferase (GALT) Enzyme-linked immunosorbent assay for Antigen Detection.
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  12. ErratumProc. Natl. Acad. Sci. U.S.A. 88:7457-7457(1991)
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  21. "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]
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  25. "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]
  26. "Molecular analysis in newborns from Texas affected with galactosemia."Hum. Mutat. 19:82-83(2002) [PubMed] [Europe PMC] [Abstract]
  27. "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]
  28. "Identification of novel mutations in classical galactosemia."Hum. Mutat. 25:502-502(2005) [PubMed] [Europe PMC] [Abstract]
  29. "Mutational spectrum of classical galactosaemia in Spain and Portugal."J. Inherit. Metab. Dis. 29:739-742(2006) [PubMed] [Europe PMC] [Abstract]
  30. "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]
  31. "Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia."J. Inherit. Metab. Dis. 31:S333-S337(2008) [PubMed] [Europe PMC] [Abstract]
  32. "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]
  33. "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]
  34. "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]