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FGF14

fibroblast growth factor 14
4 disorders 2 causative 1 no genetic record 1 untyped 13q33.1 gene with protein product
HGNC:3671MonarchNCBI Gene 2259ENSG00000102466UniProt Q92915OMIM 601515

Aliases: FHF4, SCA27.

In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
Spinocerebellar Ataxia 27A causative germline loss of function
mechanism: Heterozygous FGF14 Loss-of-Function Variants; Loss of FGF14 Regulation of Purkinje Neuron Nav Channels; Reduced iFGF14 Protein
Spinocerebellar ataxia 27B causative germline
mechanism: FGF14 Intronic GAA Repeat Expansion
variant: FGF14 GAAGGA / AAGGAG interrupted hexameric repeat configuration; FGF14 intron 1 (GAA)n repeat expansion
Autosomal Dominant Cerebellar Ataxia Type I untyped
SCA27A FGF14 coding variants
mechanism: Purkinje-Cell Ion Channel and Excitability Dysfunction
subtype: SCA27
scoped to subtype: SCA27
Autosomal Dominant Cerebellar Ataxia no genetic record
mechanism: Noncoding Repeat Expansion
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.