Previous symbols: C20orf48, NBIA1. Aliases: HSS, FLJ11729, PKAN, HARP.
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 |
|---|---|---|
| Neurodegeneration With Brain Iron Accumulation |
untyped
Causal variants
|
mechanism: Genetic pathway heterogeneity
subtype: PKAN
scoped to subtype: PKAN
|
| pantothenate kinase-associated neurodegeneration |
untyped
Loss-of-function
|
mechanism: PANK2 loss of function
diagnosis: Molecular genetic testing
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.