TABLE 1.
Genes responsible for HSP encoding enzymes of the metabolism of lipids.
| Gene | Protein name | Function |
| Cholesterol | ||
| CYP7B1 (SPG5) | Cytochrome P450-7B1 | Degradation of oxysterols |
| CYP27A1 (CTX) | Cytochrome p450-7A1 | Degradation of oxysterols |
| Phospholipids | ||
| EPT1/SelenoI | Ethanolaminephospho-transferase 1 | Phosphatidylethanolamine synthesis, plasmalogens synthesis |
| SERAC1 | SERAC1 | Phosphatidylglycerol remodeling |
| PNPLA6/NTE (SPG39) | Patatin-like phospholipase domain containing 6/Neuropathy target esterase | Phospholipase A2 |
| PLA2G6 | Group VI phospholipase A2, iPLA2b | Phospholipase A2, release of docosahexaenoic acid from phospholipids |
| DDHD1 (SPG28) | DDHD1 | Phospholipase A1, hydrolysis of PI, PA, PS |
| DDHD2 (SPG54) | DDHD2 | Phospholipase A1, hydrolysis of PA; TAG lipase |
| CYP2U1 (SPG49/56) | CYP2U1 | Cytochrome P450, hydroxylation of fatty acids, oxidation of N-arachidonoylserotonin |
| Glycosphingolipids | ||
| B4GALNT1 (SPG26) | β-1,4-N-acetyl-galactosaminyltransferase | Synthesis of complex gangliosides |
| GBA2 (SPG46) | β-Glucosidase 2 | Non-lysosomal glucosylceramidase |
| FA2H (SPG35) | Fatty acid-2 hydroxylase | Formation of 2-hydroxy fatty acids incorporated into galactosylceramide |
| SLC33A1 (SPG42) | Acetyl-coA transporter 1 | O-acetylation of complex gangliosides GD3 and GT3? |
| GALC (Krabbe) | Galactosylcerebrosidase | Degradation of galactosylceramide |
| ARSA (MLD) | Arylsulfatase A | Degradation of sulfatides |
| Fatty acids | ||
| ABCD1 (X-ALD) | Adrenoleukodystrophy protein (ADLP) | VLCFA import into peroxisomes |
| ELOVL1 | Fatty acid Elongase 1 | Elongation of fatty acids |
| ELOVL4 | Fatty acid Elongase 4 | Elongation of fatty acids |
| ALDH3A2 (SLS) | Aldehyde Dehydrogenase 3 Family Member A2 | Aldehyde Dehydrogenase |
PI: phosphatidylinositol, PA: phosphatidic acid; PS: phosphatidylserine; TAG: triacylglycerols.