rs766180659
This variant is located in the SPTLC1 gene.
▶ClinVar annotation
Hereditary sensory and autonomic neuropathy type 1
View on ClinVar →About SPTLC1
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]
View all SPTLC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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