Ube2A 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.
.infobox .infobox-gene
| Gene Symbol | UBE2A |
|---|---|
| Gene Name | Ubiquitin Conjugating Enzyme E2 A |
| Chromosome | Xq24 |
| NCBI Gene ID | 7328 |
| OMIM ID | 300036 |
| Ensembl ID | ENSG00000150991 |
| UniProt ID | P49411 |
| Associated Diseases | X-Landed Mental Retardation, Hernandez Syndrome |
| --- | --- |
| Categories | DNA Repair, Genome Stability |
This section provides a comprehensive overview of the gene/protein and its role in the nervous system and neurodegenerative diseases.
UBE2A is a ubiquitin-conjugating enzyme (E2) that works with various E3 ligases including RAD18 and RNF168. It participates in DNA damage repair, histone ubiquitination, and protein degradation. UBE2A is located on the X chromosome, and mutations cause X-linked mental retardation with dysmorphic features.
The UBE2A gene is associated with several diseases.
The study of Ube2A 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.