This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010],
Western Blot analysis of mouse-heart cells using primary antibody diluted at 1:2000(4C overnight). Secondary antibody:Goat Anti-rabbit IgG IRDye 800( diluted at 1:5000, 25C, 1 hour)
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