Entrez gene ID | | 10558 |
Official gene symbol | | SPTLC1 |
Full name | | serine palmitoyltransferase, long chain base subunit 1 |
Aliases | | ,HSAN,HSAN1,HSN1,LBC1,LCB1,MGC14645,SPT1,SPTI, |
Gene summary | | Serine 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] |
Location | | Chromosome: 9 Locus: 9q22.2 |
Gene position | | 94877690 - 94793427 Map Viewer |
Gene orientation | | minus |
Gene size | | 84264 bp |
Gene sequence |
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OMIM ID | | 605712 |
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