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SPTLC1

Gene

serine palmitoyltransferase long chain base subunit 1

HGNCHGNC:11277EnsemblENSG00000090054NCBI Gene10558
Locus: gene with protein productLocation: 9q22.31

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asHSN1 · LCB1 · SPTI · HSAN1 · hLCB1
View full nomenclature history (6)
Previous symbolsHSN1
Alias symbolsLCB1, SPTI, HSAN1, hLCB1
Previous nameshereditary sensory neuropathy, type 1

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Charcot-Marie-Tooth Disease
Hereditary sensory and autonomic neuropathy type 2
Genetic Diseases, Inborn
Neurodegenerative Diseases

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Serine palmitoyltransferase long chain base subunits

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.