Literature summary for 1.1.1.102 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.

Search for more literature for 1.1.1.102

Application

Application	Comment	Organism
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

Protein Variants	Comment	Organism
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

Organism	UniProt	Comment	Textmining
Bos taurus	Q2KIJ5	isoform Fvt1	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Synonyms

Synonyms	Comment	Organism
Fvt1	-	Bos taurus

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Release 2023.1 (January 2023)