Rockville, MD/Seattle, WA ?May 11, 2010 ?OriGene and the Institute for Systems Biology (ISB), announce plans to create a proteotypic PeptideAtlas and develop an SRM/MRM mass spectrometry standard database for 5,000 human proteins (Press Release)
Summary: 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].
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