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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SPTLC1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID10558
Official gene symbolSPTLC1
Full nameserine palmitoyltransferase, long chain base subunit 1
Aliases,HSAN,HSAN1,HSN1,LBC1,LCB1,MGC14645,SPT1,SPTI,
Gene summarySerine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq]
LocationChromosome: 9   Locus: 9q22.2
Gene position94877690 - 94793427  Map Viewer
Gene orientationminus
Gene size84264 bp
Gene sequence
OMIM ID605712