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.
Bejaoui
K
K
C.B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital (East), Charlestown, Massachusetts, USA.
Wu
C
C
Scheffler
M D
MD
Haan
G
G
Ashby
P
P
Wu
L
L
de Jong
P
P
Brown
R H
RH
D000217:Acyltransferases / Q000235:genetics*; D000818:Animals; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D005727:Ganglia, Spinal / Q000201:enzymology; D015870:Gene Expression; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D051381:Rats; D051102:Serine C-Palmitoyltransferase
D018076:DNA, Complementary; D000217:Acyltransferases; C495089:SPTLC2 protein, human; D051102:Serine C-Palmitoyltransferase