SPTLC1
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | SPTLC1 |
| GeneCards | SPTLC1 |
| Diseases | SPTLC1 |
| wikipedia | SPTLC1 |
| SPTLC1 | |
| gopubmed | SPTLC1 |
| EVS | SPTLC1 |
| HEFalMp | SPTLC1 |
| MyGene2 | SPTLC1 |
| 23andMe | SPTLC1 |
| # SNPs | 10 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs11790991 | 0 | 92,111,042 | |
| rs119482081 | 0 | 92,080,045 | |
| rs119482082 | 0 | 92,080,044 | |
| rs119482083 | 0 | 92,068,095 | |
| rs119482084 | 0 | 92,038,342 | |
| rs267607087 | 0 | 92,047,261 | |
| rs267607088 | 0 | 92,047,198 | |
| rs2895201 | 0 | 92,094,213 | |
| rs7872515 | 0 | 92,060,258 | |
| rs797045071 | 0 | 92,047,181 |
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
