SPTLC1, Official Symbol SPTLC1provided by HGNC Official Full Name serine palmitoyltransferase long chain base subunit 1provided by HGNC Primary source HGNC:HGNC:11277 See related Ensembl:ENSG00000090054 MIM:605712; AllianceGenome:HGNC:11277 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSN1; LBC1; LCB1; SPT1; SPTI; ALS27; HSAN1 Summary This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in thyroid (RPKM 21.8), esophagus (RPKM 19.8) and 25 other tissues See more Orthologs mouse all