SPTLC1 is mutated in hereditary sensory neuropathy, type 1

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

doi:10.1038/85817

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

Nat Genet. 2001 Mar;27(3):261-2. doi: 10.1038/85817.

Authors

K Bejaoui¹, C Wu, M D Scheffler, G Haan, P Ashby, L Wu, P de Jong, R H Brown Jr

Affiliation

¹ C.B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital (East), Charlestown, Massachusetts, USA.

PMID: 11242106
DOI: 10.1038/85817

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Acyltransferases / genetics*
Animals
Chromosomes, Human, Pair 9 / genetics
DNA, Complementary / genetics
Female
Ganglia, Spinal / enzymology
Gene Expression
Hereditary Sensory and Autonomic Neuropathies / enzymology*
Hereditary Sensory and Autonomic Neuropathies / genetics*
Humans
Male
Mutation*
Rats
Serine C-Palmitoyltransferase

Substances

DNA, Complementary
Acyltransferases
SPTLC2 protein, human
Serine C-Palmitoyltransferase