SPTLC1 Back

serine palmitoyltransferase, long chain base subunit 1

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NCBI Description of SPTLC1
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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SPTLC1 is highly significantly mutated in
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SPTLC1 is significantly mutated in
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SPTLC1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SPTLC1