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fibroblast growth factor 14; FGF-14; fibroblast growth factor homologous factor 4; FHF-4 (FGF14 FHF4)
Function:
- probably involved in nervous system development & function
Structure:
- belongs to the heparin-binding growth factors family
Compartment: nucleus (probable)
Alternative splicing: named isoforms=2
Expression: nervous system
Pathology:
- mutation in FGF14 gene associated with spinocerebellar ataxia 27
- variant in position: 44:W->C (in a colorectal cancer sample)
- intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia [3]
Related
spinocerebellar ataxia type 27 (SCA-27)
General
fibroblast growth factor
nuclear protein
Properties
SIZE: entity length = 247 aa
MW = 28 kD
COMPARTMENT: cell nucleus
MOTIF: binding site
FOR-BINDING-OF: heparan sulfate
SECRETED-BY: endothelial cell
Database Correlations
OMIM correlations
MORBIDMAP 601515
UniProt Q92915
Pfam PF00167
Entrez Gene 2259
Kegg hsa:2259
References
- UniProt :accession Q92915
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FGF14
- Pellerin D et al.
Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia.
N Engl J Med 2023 Jan 12; 388:128
PMID: 36516086
https://www.nejm.org/doi/10.1056/NEJMoa2207406