Galactose-1-phosphate uridylyltransferase

Galactose-1-phosphate uridylyltransferase

Galactose-1-phosphate uridyl transferase (or GALT) is an enzyme (EC number|2.7.7.12) responsible for converting ingested galactose to glucose.cite web | title = Entrez Gene: GALT galactose-1-phosphate uridylyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2592| accessdate = ]

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summary_text = 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 expression of GALT is controlled by the actions of the FOXO3 gene. 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.cite web | title = Entrez Gene: GALT galactose-1-phosphate uridylyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2592| accessdate = ]

More specifically, it creates UDP-galactose and glucose 1-phosphate from UDP-glucose and galactose 1-phosphate.

Clinical significance

Deficiency of GALT causes classic galactosemia.

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Reichardt JK |title=Genetic basis of galactosemia |journal=Hum. Mutat. |volume=1 |issue= 3 |pages= 190–6 |year= 1993 |pmid= 1301925 |doi= 10.1002/humu.1380010303
*cite journal | author=Tyfield L, Reichardt J, Fridovich-Keil J, "et al." |title=Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene |journal=Hum. Mutat. |volume=13 |issue= 6 |pages= 417–30 |year= 1999 |pmid= 10408771 |doi= 10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0
*cite journal | author=Reichardt JK, Belmont JW, Levy HL, Woo SL |title=Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia |journal=Genomics |volume=12 |issue= 3 |pages= 596–600 |year= 1992 |pmid= 1373122 |doi=10.1016/0888-7543(92)90453-Y
*cite journal | author=Leslie ND, Immerman EB, Flach JE, "et al." |title=The human galactose-1-phosphate uridyltransferase gene |journal=Genomics |volume=14 |issue= 2 |pages= 474–80 |year= 1992 |pmid= 1427861 |doi=10.1016/S0888-7543(05)80244-7
*cite journal | author=Reichardt JK, Levy HL, Woo SL |title=Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase |journal=Biochemistry |volume=31 |issue= 24 |pages= 5430–3 |year= 1992 |pmid= 1610789 |doi=10.1021/bi00139a002
*cite journal | author=Reichardt JK, Packman S, Woo SL |title=Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase |journal=Am. J. Hum. Genet. |volume=49 |issue= 4 |pages= 860–7 |year= 1991 |pmid= 1897530 |doi=
*cite journal | author=Reichardt JK, Woo SL |title=Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 7 |pages= 2633–7 |year= 1991 |pmid= 2011574 |doi=10.1073/pnas.88.7.2633
*cite journal | author=Flach JE, Reichardt JK, Elsas LJ |title=Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase |journal=Mol. Biol. Med. |volume=7 |issue= 4 |pages= 365–9 |year= 1990 |pmid= 2233247 |doi=
*cite journal | author=Reichardt JK, Berg P |title=Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase |journal=Mol. Biol. Med. |volume=5 |issue= 2 |pages= 107–22 |year= 1988 |pmid= 2840550 |doi=
*cite journal | author=Bergren WG, Donnell GN |title=A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant |journal=Ann. Hum. Genet. |volume=37 |issue= 1 |pages= 1–8 |year= 1974 |pmid= 4759900 |doi=
*cite journal | author=Shih LY, Suslak L, Rosin I, "et al." |title=Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9 |journal=Am. J. Med. Genet. |volume=19 |issue= 3 |pages= 539–43 |year= 1985 |pmid= 6095663 |doi= 10.1002/ajmg.1320190316
*cite journal | author=Ashino J, Okano Y, Suyama I, "et al." |title=Molecular characterization of galactosemia (type 1) mutations in Japanese |journal=Hum. Mutat. |volume=6 |issue= 1 |pages= 36–43 |year= 1995 |pmid= 7550229 |doi= 10.1002/humu.1380060108
*cite journal | author=Elsas LJ, Langley S, Paulk EM, "et al." |title=A molecular approach to galactosemia |journal=Eur. J. Pediatr. |volume=154 |issue= 7 Suppl 2 |pages= S21–7 |year= 1995 |pmid= 7671959 |doi=10.1007/BF02143798
*cite journal | author=Elsas LJ, Langley S, Steele E, "et al." |title=Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes |journal=Am. J. Hum. Genet. |volume=56 |issue= 3 |pages= 630–9 |year= 1995 |pmid= 7887416 |doi=
*cite journal | author=Fridovich-Keil JL, Langley SD, Mazur LA, "et al." |title=Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family |journal=Am. J. Hum. Genet. |volume=56 |issue= 3 |pages= 640–6 |year= 1995 |pmid= 7887417 |doi=
*cite journal | author=Davit-Spraul A, Pourci ML, Ng KH, "et al." |title=Regulatory effects of galactose on galactose-1-phosphate uridyltransferase activity on human hepatoblastoma HepG2 cells |journal=FEBS Lett. |volume=354 |issue= 2 |pages= 232–6 |year= 1994 |pmid= 7957929 |doi=10.1016/0014-5793(94)01133-8
*cite journal | author=Lin HC, Kirby LT, Ng WG, Reichardt JK |title=On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT) |journal=Hum. Genet. |volume=93 |issue= 2 |pages= 167–9 |year= 1994 |pmid= 8112740 |doi=10.1007/BF00210604
*cite journal | author=Elsas LJ, Dembure PP, Langley S, "et al." |title=A common mutation associated with the Duarte galactosemia allele |journal=Am. J. Hum. Genet. |volume=54 |issue= 6 |pages= 1030–6 |year= 1994 |pmid= 8198125 |doi=
*cite journal | author=Reichardt JK, Novelli G, Dallapiccola B |title=Molecular characterization of the H319Q galactosemia mutation |journal=Hum. Mol. Genet. |volume=2 |issue= 3 |pages= 325–6 |year= 1993 |pmid= 8499924 |doi=10.1093/hmg/2.3.325

External links

*
* [http://www.arup.utah.edu/database/galactosemia/GALT_welcome.php Galactosemia (GALT) Mutation Database]

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