| SPG35 | |
|---|---|
| Full Name | SPG35 (Spastic Paraplegia 35 / FA2H) |
| Chromosomal Location | 16q23.3 |
| NCBI Gene ID | 64080 |
| OMIM | 610672 |
| UniProt ID | Q8IWA4 |
| Category | Lipid Metabolism |
The SPG35 gene encodes SPG35 (Spastic Paraplegia 35 / FA2H), a lipid metabolism protein. It is involved in various cellular processes relevant to neurodegeneration.
SPG35 encodes fatty acid 2-hydroxylase (FA2H), an enzyme involved in the synthesis of 2-hydroxy fatty acids that are essential components of myelin lipids. FA2H is critical for maintaining myelin integrity in the central nervous system.
| Disease | Role in Disease |
|---|---|
| Hereditary Spastic Paraplegia 35 | Complex HSP with white matter abnormalities |
| Spastic Paraplegia 35 with Iron Accumulation | Neurodegeneration with brain iron accumulation (NBIA) |