SPTLC2

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Serine palmitoyltransferase, long chain base subunit 2
Identifiers
Symbols SPTLC2 ; HSN1C; LCB2; LCB2A; NSAN1C; SPT2; hLCB2a
External IDs OMIM605713 MGI108074 HomoloGene21610 ChEMBL: 1250344 GeneCards: SPTLC2 Gene
EC number 2.3.1.50
RNA expression pattern
PBB GE SPTLC2 203127 s at tn.png
PBB GE SPTLC2 203128 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9517 20773
Ensembl ENSG00000100596 ENSMUSG00000021036
UniProt O15270 P97363
RefSeq (mRNA) NM_004863 NM_011479
RefSeq (protein) NP_004854 NP_035609
Location (UCSC) Chr 14:
77.97 – 78.08 Mb
Chr 12:
87.31 – 87.39 Mb
PubMed search [1] [2]

Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a protein which in humans is encoded by the SPTLC2 gene.[1][2][3]

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal 5'-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. Alternatively spliced variants encoding different isoforms have been identified.[1]

References[edit]

  1. ^ a b "Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 2". 
  2. ^ Nagiec MM, Lester RL, Dickson RC (October 1996). "Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase". Gene 177 (1–2): 237–41. doi:10.1016/0378-1119(96)00309-5. PMID 8921873. 
  3. ^ Weiss B, Stoffel W (October 1997). "Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis". Eur. J. Biochem. 249 (1): 239–47. doi:10.1111/j.1432-1033.1997.00239.x. PMID 9363775. 

Further reading[edit]