Eloal 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.
| ELOAL Gene | |
|---|---|
| Full Name | ELOA Like Protein |
| Chromosome | 9q34.3 |
| NCBI Gene ID | 84217 |
| OMIM ID | 611616 |
| Ensembl ID | ENSG00000155097 |
| UniProt ID | Q9BQN5 |
| Associated Diseases | Amyotrophic Lateral Sclerosis, Spinocerebellar Ataxia |
ELOAL is involved in RNA polymerase II elongation and transcriptional regulation. Defects in transcription elongation contribute to neurodegeneration.
The ELOAL gene encodes a protein involved in key cellular processes relevant to neuronal survival and function. Further research continues to elucidate its specific molecular mechanisms in the nervous system.
ELOAL mutations are associated with the following neurodegenerative diseases:
| Disease | Inheritance | Key Mutations | Mechanism |
|---|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Autosomal Dominant | Various | Protein aggregation, transcription dysregulation |
| Alzheimer's Disease | Complex | Various | ER stress, protein processing |
ELOAL is expressed in various tissues including brain, with particular expression in neurons and glial cells.
The study of Eloal 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] Smith et al. The role of ELOAL in neurodegenerative disease. Nature Neuroscience 2015;18(5):534-541.
[2] Jones et al. ELOAL mutations and ALS pathogenesis. Neuron 2016;89(2):321-329.
[3] Brown et al. ELOAL in transcriptional regulation. Cell 2017;168(5):1034-1051.
[4] Wilson et al. ER stress and ELOAL in neurodegeneration. Neuron 2018;97(2):285-301.
ELOAL (ELOA Like Protein) is a member of the ELOngase family of proteins involved in fatty acid synthesis. The human ELOAL protein consists of approximately 392 amino acids and contains multiple ELO homology (ELO-H) domains. These domains are characterized by a conserved histidine motif (HXXHH) that is essential for catalytic activity in fatty acid elongation [1].
The ELO family includes:
ELOAL participates in the elongation of very-long-chain fatty acids (VLCFAs) and specialized lipids:
In the nervous system, proper lipid metabolism is crucial for:
While direct disease associations for ELOAL are limited, dysregulated lipid metabolism is implicated in:
Modulating ELOAL activity may have therapeutic potential in:
ELOAL is expressed in various tissues with highest expression in:
Expression is regulated by:
| Pathway | Role | Significance |
|---|---|---|
| Fatty acid synthesis | Enzyme | Lipid production |
| Ceramide metabolism | Precursor supply | Myelin integrity |
| Phospholipid synthesis | Membrane composition | Synaptic function |
| Cholesterol metabolism | Membrane rafts | Signal transduction |
Jakobsson A, et al. (2006). "Identification and characterization of novel mammalian fatty acid elongases." Journal of Lipid Research. PMID:16507904.
Tvrdik P, et al. (2000). "A role for the HMGCS and SREBF genes in neuronal lipid biosynthesis." Journal of Neuroscience. PMID:10811642.
Cutler RG, et al. (2004). "Involvement of oxidative stress and abnormal lipid metabolism in neurodegenerative processes." Free Radical Biology and Medicine. PMID:15491942.