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.
C.B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital (East), Charlestown, Massachusetts, USA.
K
K
Bejaoui
C
C
Wu
M D
MD
Scheffler
G
G
Haan
P
P
Ashby
L
L
Wu
P
P
de Jong
R H
RH
Brown
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