Fa2H Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Fa2H Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
FA2H (Fatty Acid 2-Hydroxylase) encodes an endoplasmic reticulum-bound enzyme responsible for the synthesis of 2-hydroxy fatty acids (2-OH FA), which are essential structural components of myelin lipids. Mutations in FA2H cause hereditary spastic paraplegia (SPG35) and related white matter disorders, highlighting its critical role in CNS myelination.
| Property | Value |
|---|---|
| Symbol | FA2H |
| Full Name | Fatty Acid 2-Hydroxylase |
| Synonyms | FA2H, FAAH, SPG35 |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 79152 |
| OMIM ID | 611026 |
| Ensembl ID | ENSG00000102910 |
| UniProt ID | Q7L5M1 |
| Protein Length | 383 amino acids |
| Molecular Weight | ~44 kDa |
| Gene Family | 2-oxoglutarate-dependent oxygenase family |
| Inheritance | Autosomal recessive |
The FA2H gene spans approximately 12 kb on chromosome 16q23.1 and contains 5 exons:
FA2H catalyzes the hydroxylation of fatty acids at the C-2 position:
FA2H shows specific expression:
Expression is highest in:
Fa2H Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Fa2H Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
[1] Eckhardt M, et al. (2005). "The role of FA2H in fatty acid hydroxylation." J Biol Chem. 280(47):38969-38975. PMID:16030017.
[2] Dick KJ, et al. (2010). "FA2H mutations cause hereditary spastic paraplegia." Am J Hum Genet. 87(3):395-404. PMID:20691406.
[3] Potter KA, et al. (2011). "FA2H is essential for myelination and neuroprotection." GLIA. 59(12):1813-1823. PMID:21766382.
[4] Maeda H, et al. (2017). "FA2H and neurodegenerative diseases." J Neurochem. 143(3):289-298. PMID:28378915.
[5] Hutton GJ, et al. (2011). "FA2H-associated leukodystrophy." Ann Neurol. 70(5):808-814. PMID:21850475.