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1.1.1.102: 3-dehydrosphinganine reductase

This is an abbreviated version!
For detailed information about 3-dehydrosphinganine reductase, go to the full flat file.

Word Map on EC 1.1.1.102

Reaction

sphinganine
+
NADP+
=
3-dehydrosphinganine
+
NADPH
+
H+

Synonyms

3-KDS reductase, 3-ketodihydrosphingosine reductase, 3-ketosphinganine reductase, 3-oxosphinganine reductase, 3-oxosphinganine:NADPH oxidoreductase, 3KDSR, D-3-dehydrosphinganine reductase, D-3-oxosphinganine reductase, D-3-oxosphinganine:B-NADPH oxidoreductase, DSR, FVT-1, Fvt1, h-FTV-1, KDS reductase, Ksr1p, KsrA, m-FTV-1, More, TSC10, TSC10A, Tsc10p

ECTree

     1 Oxidoreductases
         1.1 Acting on the CH-OH group of donors
             1.1.1 With NAD+ or NADP+ as acceptor
                1.1.1.102 3-dehydrosphinganine reductase

Disease

Disease on EC 1.1.1.102 - 3-dehydrosphinganine reductase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Carcinogenesis
Identification of target genes regulated by FOXC1 using nickel agarose-based chromatin enrichment.
Ichthyosis
Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation.
Leukemia
3-Ketodihydrosphingosine reductase maintains ER homeostasis and unfolded protein response in leukemia.
Lymphoma, Follicular
FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma.
Muscular Atrophy, Spinal
A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy.
Neoplasms
FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma.
Thrombocytopenia
Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation.