LIPT2 Chromosome 11
Lipoyl(octanoyl) transferase 2
Upload your DNA to see your personal genotypes for variants in LIPT2.
What This Gene Does
This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Associated Conditions (4)
Encephalopathy
neonatal severe
with lactic acidosis and brain abnormalities
LIPT2-related disorder
Key Variants
RS539962457
Conflicting classifications of pathogenicity
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Health Risk
RS562535449
Conflicting classifications of pathogenicity
Health Risk
RS753904927
Conflicting classifications of pathogenicity
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Health Risk
RS1034676748
Likely pathogenic
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Health Risk
RS1190703859
Pathogenic/Likely pathogenic
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS539962457 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities |
| RS562535449 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753904927 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities |
| RS1034676748 | Health Risk | Likely pathogenic | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities |
| RS1190703859 | Health Risk | Pathogenic/Likely pathogenic | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities |