Table 2.
VLCFA-related genes mutated in inherited diseases
| Gene | Chromosome | Function | Disease |
|---|---|---|---|
| ELOVL4 | 6 | FA elongase (condensation) | Stargardt-like macular dystrophy (STGD3) (dominant) Ichthyosis, nervous system abnormalities (recessive) |
| HACD1 (PTPLA) | 10 | 3-Hydroxyacyl-CoA dehydratase | Myopathy |
| TER (TECR) | 19 | Trans-2-enoyl-CoA reductase | Non-syndromic mental retardation |
| CERS3 | 15 | Cer synthase | Ichthyosis |
| ABCA12 | 2 | Glucosylceramide transport into LB | Ichthyosis |
| FA2H | 16 | 2-Hydroxylation of FA | Leukodystrophy with spastic paraparesis and dystonia |
| ABCD1 | X | VLCFA-CoA transport into peroxisome | X-linked adrenoleukodystrophy (X-ALD) |
| ACOX1 | 17 | VLCFA β-oxidation in peroxisome | Leukodystrophy, other nervous system abnormalities |
| HSD17β4 | 5 | VLCFA β-oxidation in peroxisome | Leukodystrophy, other nervous system abnormalities |