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SPTLC1

From SNPedia
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ClinVarSPTLC1
GeneCardsSPTLC1
DiseasesSPTLC1
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EVSSPTLC1
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MyGene2SPTLC1
23andMeSPTLC1
# SNPs10
 Max MagnitudeChromosome positionSummary
rs11790991092,111,042
rs119482081092,080,045
rs119482082092,080,044
rs119482083092,068,095
rs119482084092,038,342
rs267607087092,047,261
rs267607088092,047,198
rs2895201092,094,213
rs7872515092,060,258
rs797045071092,047,181

The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). Inherited in a dominant manner, at least nine mutations in the SPTLC1 gene have been found to cause hereditary sensory neuropathy type IA. This condition is characterized by nerve abnormalities in the legs and feet (peripheral neuropathy); a reduced ability to feel pain, which can lead to the development of open sores; and muscle weakness that can impair mobility. The best known mutation is known as C133Y, also known as rs119482081(G).GHR