Aliases: ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138.
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 |
|---|---|---|
| Spastic Ataxia | causative |
mechanism: White Matter Degeneration and Secondary Demyelination
subtype: ARSACS
scoped to subtype: ARSACS
|
| Charlevoix-Saguenay spastic ataxia |
untyped
Causal biallelic loss-of-function variant
|
mechanism: Sacsin loss of function
diagnosis: Molecular genetic testing for SACS variants
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.