The PENK gene encodes Proenkephalin, a protein involved in Precursor to enkephalin opioid peptides, important for pain regulation and reward pathways. This page provides comprehensive information about its structure, function, and role in neurodegenerative diseases.
| PENK (Proenkephalin) | |
|---|---|
| Official Symbol | PENK |
| Full Name | Proenkephalin |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 5179 |
| OMIM | 131330 |
| Ensembl ID | ENSG00000100644 |
| UniProt ID | P01210 |
The PENK gene is an important component in the molecular pathways underlying neurodegenerative diseases. Understanding its function provides insights into disease mechanisms and potential therapeutic targets.
Precursor to enkephalin opioid peptides, important for pain regulation and reward pathways. This gene plays critical roles in normal physiological processes and its dysregulation contributes to pathological states in various neurodegenerative conditions.
PENK has been implicated in Alzheimer's disease pathogenesis through various mechanisms involving neuroinflammation, tau pathology, and synaptic dysfunction.
The gene is involved in dopaminergic neuron survival and mitochondrial function relevant to Parkinson's disease.
PENK alterations have been reported in ALS, FTD, and Huntington's disease.
Single nucleotide polymorphisms (SNPs) in PENK have been associated with disease risk and progression in neurodegenerative disorders.
PENK expression is altered in affected brain regions in neurodegenerative diseases, providing insights into its role in disease pathogenesis.
PENK interacts with various molecular pathways including:
PENK-based therapeutic strategies are being explored for neurodegenerative diseases, including:
Understanding PENK function may lead to: