Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.1.1.61 extracted from

  • Zeharia, A.; Shaag, A.; Pappo, O.; Mager-Heckel, A.M.; Saada, A.; Beinat, M.; Karicheva, O.; Mandel, H.; Ofek, N.; Segel, R.; Marom, D.; Roetig, A.; Tarassov, I.; Elpeleg, O.
    Acute infantile liver failure due to mutations in the TRMU gene (2009), Am. J. Hum. Genet., 85, 401-407.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
A10S the mutation is associated with acute liver failure in infancy Homo sapiens
G14S the mutation is associated with acute liver failure in infancy Homo sapiens
G272D the mutation is associated with acute liver failure in infancy Homo sapiens
L233F/A10S the mutation is associated with acute liver failure in infancy Homo sapiens
M1K the mutation is associated with acute liver failure in infancy Homo sapiens
V279M the mutation is associated with acute liver failure in infancy Homo sapiens
Y77H the mutation is associated with acute liver failure in infancy Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
TRMU
-
Homo sapiens
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
-
Homo sapiens