Xpa 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.
| Property | Value |
|---|---|
| Gene Symbol | XPA |
| Full Name | XPA DNA Repair Endonuclease |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 7508 |
| OMIM ID | 278700 |
| Ensembl ID | ENSG00000136936 |
| UniProt ID | P18077 |
| Encoded Protein | DNA repair protein XPA |
| Associated Diseases | Xeroderma pigmentosum, neurodegeneration |
XPA is a gene involved in various cellular processes. The encoded protein plays important roles in metabolism, cellular signaling, and disease pathogenesis.
XPA encodes a zinc-finger protein essential for nucleotide excision repair (NER). XPA recognizes and verifies DNA damage, facilitating repair of UV-induced lesions and chemical adducts.
Key functions include:
XPA mutations cause XP complementation group A, characterized by:
XPA deficiency leads to neurodegeneration through:
XPA is expressed in:
The study of Xpa 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.