{"symbol":"SPTLC2","synonyms":["LCB2A","SPT2","NSAN1C","HLCB2A","HSN1C","LCB2"],"name":"serine palmitoyltransferase, long chain base subunit 2","description":"This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]","ncbiEntrezGeneId":9517,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9517","proteins":[{"symbol":"SPTC2_HUMAN","href":"/api/1.0/protein/SPTC2_HUMAN"}],"hgncRootFamilies":[]}