Fanca 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.
| Fanconi Anemia Group A | |
|---|---|
| Gene Symbol | FANCA |
| Full Name | Fanconi Anemia Group A |
| Chromosome | 16q24.3 |
| NCBI Gene ID | 2175 |
| OMIM | 607139 |
| Ensembl ID | ENSG00000188191 |
| UniProt ID | O15360 |
| Associated Diseases | Fanconi Anemia, Breast Cancer, Parkinson's Disease |
FANCA encodes the most frequently mutated protein in Fanconi anemia, forming the core of the FA core complex essential for DNA interstrand crosslink repair. It is critical for maintaining genomic stability and is implicated in both cancer predisposition and neurodegenerative diseases.
FANCA is the most frequently mutated gene in Fanconi anemia and encodes a key protein in the FA core complex. The FA pathway is essential for DNA interstrand crosslink (ICL) repair and maintenance of genomic stability.
Key functions include:
FANCA is expressed ubiquitously:
The study of Fanca 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.
*FANCA is the most frequently mutated gene in Fanconi anemia, with over 600 pathogenic variants described.