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
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Research Support, Non-U.S. Gov't
MeSH terms
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Acyltransferases / genetics*
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Animals
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Chromosomes, Human, Pair 9 / genetics
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DNA, Complementary / genetics
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Female
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Ganglia, Spinal / enzymology
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Gene Expression
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Hereditary Sensory and Autonomic Neuropathies / enzymology*
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Hereditary Sensory and Autonomic Neuropathies / genetics*
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Humans
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Male
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Mutation*
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Rats
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Serine C-Palmitoyltransferase
Substances
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DNA, Complementary
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Acyltransferases
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SPTLC2 protein, human
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Serine C-Palmitoyltransferase