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Literature summary for 2.7.7.12 extracted from

  • Tran, T.T.; Liu, Y.; Zwick, M.E.; Ramachandran, D.; Cutler, D.J.; Huang, X.; Berry, G.T.; Fridovich-Keil, J.L.
    A de novo variant in galactose-1-P uridylyltransferase (GALT) leading to classic galactosemia (2015), JIMD Rep., 19, 1-6.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine not all pathogenic GALT mutations are inherited and GALT may have a higher new mutation rate than previously believed. The variant Q188P is found in the compound heterozygous state in a child with classic galactosemia, but not in either of her parents. The patient inherited a common Q188R GALT mutation from the mother Homo sapiens

Protein Variants

Protein Variants Comment Organism
Q188P variant identified in a patient with classic galactosemia, introduces a missense substitution near the active site of the GALT enzyme. The variant is found in the compound heterozygous state in a child with classic galactosemia, but not in either of her parents. The patient inherited a common Q188R GALT mutation from the mother Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P07902
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-

Synonyms

Synonyms Comment Organism
GALT
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Homo sapiens