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Literature summary for 2.7.7.12 extracted from

  • Carney, A.E.; Sanders, R.D.; Garza, K.R.; McGaha, L.A.; Bean, L.J.; Coffee, B.W.; Thomas, J.W.; Cutler, D.J.; Kurtkaya, N.L.; Fridovich-Keil, J.L.
    Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase (2009), Hum. Mol. Genet., 18, 1624-1632.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.7.12

Protein Variants

Protein Variants Comment Organism
N314D naturally occuring mutation Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P07902
-
-

Synonyms

Synonyms Comment Organism
galactose-1-phosphate uridylyltransferase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction Duarte galactosemia results from partial impairment of galactose-1-phosphate uridylyltransferase Homo sapiens