Aliases: p53R2.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Autosomal Dominant Progressive External Ophthalmoplegia | causative germline |
mechanism: Heterozygous Nuclear mtDNA-Maintenance Gene Variant
subtype: PEOA5
scoped to subtype: PEOA5
|
| Mitochondrial Neurogastrointestinal Encephalomyopathy | causative |
scoped to subtype: MNGIE-like RRM2B
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.