Nhlrc2 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.
The NHLRC2 gene (NHL Repeat Containing 2) encodes a protein containing NHL (NHL-1, HTP-1, and Let-23) repeats. NHLRC2 is a relatively uncharacterized protein implicated in autophagy, protein quality control, and more recently in a spectrum of neurodegenerative disorders. Biallelic mutations cause a novel neurodevelopmental disorder with seizures and ataxia. [1]
| Attribute | Value | [2]
|-----------|-------| [3]
| Symbol | NHLRC2 | [4]
| Full Name | NHL Repeat Containing 2 | [5]
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 153768 |
| Ensembl ID | ENSG00000155438 |
| UniProt | Q8N8Y6 |
NHLRC2 is a 395-amino acid protein containing:
NHLRC2 functions in cellular protein homeostasis:
NHLRC2 is expressed in most tissues:
In the brain:
The study of Nhlrc2 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.