Previous symbols: NOL5A. Aliases: SCA36.
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 |
|---|---|---|
| Spinocerebellar Ataxia Type 36 | causative germline |
mechanism: Impaired NOP56 Box C/D snoRNP Function; Intronic GGCCTG Repeat Expansion in NOP56
animal model: AAV-delivered (TG3C2)62 repeat-expressing mouse; nop56 loss-of-function zebrafish
treatment: Antisense oligonucleotides targeting the expanded NOP56 repeat (investigational)
|
| Autosomal Dominant Cerebellar Ataxia Type I |
untyped
Representative SCA36 noncoding GGCCTG repeat expansion
|
mechanism: Non-polyglutamine Repeat Toxicity
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.