SPTLC2 Chromosome 14
Serine palmitoyltransferase long chain base subunit 2
Upload your DNA to see your personal genotypes for variants in SPTLC2.
What This Gene Does
This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Serine palmitoyltransferase long chain base subunits
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000100596
Associated Conditions (10)
Neuropathy
hereditary sensory and autonomic
type 1C
Inborn genetic diseases
NEUROPATHY
HEREDITARY SENSORY AND AUTONOMIC
TYPE IC
SEVERE
Charcot-Marie-Tooth disease
Hereditary neuropathy or pain disorder
Key Variants
RS1024879456
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS1131691917
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS114940503
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS139325375
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS1555379635
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS199867946
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS2079620247
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS2079675267
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS267607090
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS368865952
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS374657234
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
RS375669404
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 1C
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1024879456 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS1131691917 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS114940503 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS139325375 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS1555379635 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS199867946 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS2079620247 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS2079675267 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS267607090 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS368865952 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS374657234 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS375669404 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS577436926 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS747168398 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS752351930 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS763217879 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS769807904 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS780807321 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS2079576918 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS2140039094 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS1057519134 | Health Risk | Pathogenic | — |
| RS2503570171 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS267607091 | Health Risk | Pathogenic | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC |
| RS864621998 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS1594986869 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Neuropathy, hereditary sensory and autonomic |
| RS267607089 | Health Risk | Pathogenic/Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1C |
| RS775437084 | Health Risk | Pathogenic/Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1C |