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Literature summary extracted from

  • Krebs, S.; Medugorac, I.; Roether, S.; Straesser, K.; Foerster, M.
    A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy (2007), Proc. Natl. Acad. Sci. USA, 104, 6746-6751.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
1.1.1.102 food industry naturally occuring missense mutation A175T is linked to animals with bovine spinal muscular atrophy. Protein exhibits no detectable in vitro catalytic activity, but the mutated gene complements the growth defect of a homologous yeast knock-out strain as well as the healthy variant Bos taurus

Protein Variants

EC Number Protein Variants Comment Organism
1.1.1.102 A175T site-directed mutagenesis, naturally occuring missense mutation linked to animals with bovine spinal muscular atrophy. Protein exhibits no detectable in vitro catalytic activity, but the mutated gene complements the growth defect of a homologous yeast knock-out strain as well as the healthy variant Bos taurus

Organism

EC Number Organism UniProt Comment Textmining
1.1.1.102 Bos taurus Q2KIJ5 isoform Fvt1
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining

Synonyms

EC Number Synonyms Comment Organism
1.1.1.102 Fvt1
-
 Bos taurus