Gene Symbol | SPTLC2 |
Entrez Gene ID | 9517 |
Full Name | serine palmitoyltransferase long chain base subunit 2 |
Synonyms | HSN1C,LCB2,LCB2A,NSAN1C,SPT2,hLCB2a |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3) |