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Article

HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.

Human molecular genetics - 1 Mar 2016

Bode Heiko, Bourquin Florence, Suriyanarayanan Saranya, Wei Yu, Alecu Irina, Othman Alaa, Von Eckardstein Arnold, Hornemann Thorsten

Abstract excerpt

Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is a rare autosomal dominant inherited peripheral neuropathy caused by mutations in the SPTLC1 and SPTLC2 subunits of serine palmitoyltransferase (SPT). The mutations induce a permanent shift in the substrate preference from L-serine to L-alanine, which results in the pathological formation of atypical and neurotoxic 1-deoxy-sphingolipids (1-deoxySL)....

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Source

Identifiers

PMID: 26681808
DOI: 10.1093/hmg/ddv611

Genes

SPTLC1
SPTLC2

Variants

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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HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.PMID 26681808Read ↗

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