| created | [InstanceEdit:428151] D'Eustachio, P, 2009-07-02 |
| dbId | 428135 |
| displayName | KDSR (3-ketodihydrosphingosine reductase) enzyme associated ... |
| modified | [InstanceEdit:9843104] Stephan, Ralf, 2023-08-31 |
| schemaClass | Summation |
| text | KDSR (3-ketodihydrosphingosine reductase) enzyme associated with the cytosolic face of the endoplasmic reticulum membrane catalyzes the reduction of 3-ketosphingoid by NADPH to form sphingoid (Kihara and Igarashi 2004). Defects in KDSR or missing activity causes Erythrokeratodermia (EKVP4, MIM:617526), associated with sphingolipid dysregulation (Boyden et al., 2017). While there is no data on substrates other than 3-ketosphinganine, it is probable that KDSR has activity toward 3-ketosphingoids with other chain lengths than C16. |
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