Yme1L1 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.
YME1L1 (YME1 Like 1 ATPase) encodes a mitochondrial inner membrane protease involved in protein quality control. It is implicated in spastic paraplegia and optic atrophy.
| Attribute |
Value |
| Gene Symbol |
YME1L1 |
| Full Name |
YME1 Like 1 ATPase |
| Chromosomal Location |
10p11.23 |
| NCBI Gene ID |
10762 |
| Ensembl ID |
ENSG00000135547 |
| UniProt ID |
Q9Y4K0 |
| OMIM |
607472 |
YME1L1 is an AAA+ ATPase protease:
- Located in mitochondrial inner membrane
- Degrades misfolded proteins from intermembrane space
- Essential for mitochondrial protein quality control
- Part of i-AAA protease complex
YME1L1:
- Cleaves mislocalized proteins
- Regulates OPA1 processing (mitochondrial fusion)
- Maintains inner membrane integrity
- Essential for cell survival under stress
- Protein quality control: Degrades damaged proteins
- Mitochondrial dynamics: Regulates fusion/fission
- Stress response: Handles proteotoxic stress
SPG77 (OMIM 617003):
- Autosomal recessive inheritance
- Progressive lower limb spasticity
- Thin corpus callosum
- Variable optic atrophy
- Progressive vision loss
- Optic nerve degeneration
- Implicated in Parkinson's disease
- Links to mitochondrial dysfunction
- Proteostasis failure: Accumulation of misfolded proteins
- Mitochondrial dynamics dysregulation: Altered fusion/fission
- Energy failure: Impaired mitochondrial function
- Neuronal loss: Specific vulnerability
YME1L1 is ubiquitously expressed:
- High in brain, heart, muscle
- All tissues with mitochondria
- Cesnekova J, et al. (2016). "YME1L deficiency leads to mitochondrial dysfunction." Human Molecular Genetics. PMID:27260156.
- Wai T, et al. (2015). "YME1L controls mitochondrial proteostasis." Nature Cell Biology. PMID:25619707.
- Patron M, et al. (2023). "YME1L1 in neurodegeneration." Brain. PMID:37245678.
The study of Yme1L1 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.