SPTLC1 is mutated in hereditary sensory neuropathy, type 1

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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Bibliographic Details
Published inNature genetics Vol. 27; no. 3; pp. 261 - 262
Main Authors Brown, Robert H, Bejaoui, Khemissa, Wu, Chenyan, Scheffler, Margaret D, Haan, Geoffry, Ashby, Peter, Wu, Lianchan, de Jong, Peter
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group 01.03.2001
Subjects
Acyltransferases - genetics
Animals
Biological and medical sciences
Brain
Chromosomes
Chromosomes, Human, Pair 9 - genetics
Cloning
Complications and side effects
Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction
Diagnosis
DNA, Complementary - genetics
Female
Ganglia, Spinal - enzymology
Gene Expression
Gene loci
Gene mutations
Genetic testing
Genetics
Hereditary Sensory and Autonomic Neuropathies - enzymology
Hereditary Sensory and Autonomic Neuropathies - genetics
Humans
Male
Medical sciences
Mutation
Nervous system (semeiology, syndromes)
Neurology
Peripheral nerve diseases
Proteins
Publishing
Rats
Risk factors
Serine C-Palmitoyltransferase
United States
Genetic mapping
Human
Gene
Mutation
Peripheral neuropathy
Gene expression
Chromosome C9
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:1061-4036
1546-1718
DOI:10.1038/85817