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Article

SPTLC1 is mutated in hereditary sensory neuropathy, type 1.

Nature genetics - 1 Mar 2001

Bejaoui K, Wu C, Scheffler M D, Haan G, Ashby P, Wu L, de Jong P, Brown R H

Abstract excerpt

Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 2-4). We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.

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Share to Acyltransferases
Share to Chromosomes, Human, Pair 9
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hereditary Sensory and Autonomic Neuropathies

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Source

Identifiers

PMID: 11242106
DOI: 10.1038/85817

Genes

SPTLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SPTLC1 is mutated in hereditary sensory neuropathy, type 1.PMID 11242106Read ↗

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