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Protein-coding gene in the species Homo sapiens
Serine palmitoyltransferase, long chain base subunit 1 , also known as SPTLC1 , is a protein which in humans is encoded by the SPTLC1 gene .[ 5] [ 6]
Serine palmitoyltransferase , which consists of two different subunits, is the initial 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, macular disease,[ 7] [ 8] [ 9] [ 5]
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