Previous symbols: SCA1. Aliases: D6S504E, ATX1.
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 1 | causative germline |
treatment: ATXN1-Lowering Antisense Oligonucleotide (Investigational)
|
| Autosomal Dominant Cerebellar Ataxia Type I |
untyped
Representative SCA1 coding CAG/polyglutamine expansion
|
mechanism: Polyglutamine Proteotoxicity
|
| Autosomal Dominant Cerebellar Ataxia | no genetic record |
mechanism: Coding Polyglutamine Repeat Expansion; Expanded Polyglutamine Protein
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.