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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Bibliographische Detailangaben
Veröffentlicht in:	Nature genetics 2001-03, Vol.27 (3), p.261-262
Hauptverfasser:	Brown, Robert H, Bejaoui, Khemissa, Wu, Chenyan, Scheffler, Margaret D, Haan, Geoffry, Ashby, Peter, Wu, Lianchan, de Jong, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyltransferases - genetics Agriculture Animal Genetics and Genomics Animals Biological and medical sciences Biomedical and Life Sciences Biomedicine Brain brief-communication Cancer Research 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 Function Gene loci Gene mutations Genetic testing Genetics Hereditary Sensory and Autonomic Neuropathies - enzymology Hereditary Sensory and Autonomic Neuropathies - genetics Human Genetics Humans Male Medical sciences Mutation Nervous system (semeiology, syndromes) Neurology Peripheral nerve diseases Proteins Publishing Rats Risk factors Serine C-Palmitoyltransferase
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Beschreibung
Zusammenfassung:	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.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/85817