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

More general terms

• fibroblast growth factor
• nuclear protein

Additional terms

• spinocerebellar ataxia type 27 (SCA-27)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2259
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2259
• OMIM: https://mirror.omim.org/entry/601515
• OMIM: https://mirror.omim.org/entry/609307
• UniProt: http://www.uniprot.org/uniprot/Q92915.html