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MGP003933

Record overview

MGPD IDMGP003933
Gene ID9517
SpeciesHomo sapiens (Human)
Gene Nameserine palmitoyltransferase, long chain base subunit 2
Gene Symbol SPTLC2
SynonymsLCB2; SPT2; HSN1C; LCB2A; NSAN1C; hLCB2a;
Alternate namesserine palmitoyltransferase 2; LCB 2; SPT 2; long chain base biosynthesis protein 2a; serine palmitoyltransferase, subunit II; serine-palmitoyl-CoA transferase 2;
Chromosome14
Map Location14q24.3
EC Number2.3.1.50
SummaryThis 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]
OrthologsView orthologs and multiple alignments for SPTLC2

Proteins

serine palmitoyltransferase 2
Refseq ID:NP_004854
Protein GI:4758668
UniProt ID:O15270
mRNA ID:NM_004863
Length:562
RefSeq Status:
MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGVLTLFGYLRDFLRYWRIEKCH
HATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYG
AGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQ
PRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRT
HSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIGAFGREMLKRNIGVVVVGFPA
TPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEETED
 
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