Degenerative Spermatocyte Homolog 2, Lipid Desaturase (DEGS2)

The deduced 323-amino acid protein has a predicted molecular mass of 37.2 kD and shares 86.4% identity and 91.9% similarity with mouse Des2. DEGS2 belongs to the desaturase/hydroxylase superfamily, characterized by 3 conserved histidine boxes. Compared to DEGS1, DEGS2 has a fourth histidine box and a variation in the second amino acid residue of the 3 conserved histidine boxes. Using in vitro assays in HEK293 cells, DEGS2 exhibited dihydroceramide hydroxylase activity. Northern blot analysis of adult human tissues detected a 1.8-kb transcript with highest expression in skin, moderate expression in kidney, kidney, large intestine, and small intestine, weak expression in brain and lung, and no expression in heart, liver, spleen, skeletal muscle, thymus, or placenta.