F-box/WD repeat-containing protein 4; F-box & WD-40 domain-containing protein 4; dactylin (FBXW4, FBW4, SHFM3)

Function

• probably recognizes & binds to some phosphorylated proteins & promotes their ubiquitination & degradation
• likely to be involved in key signaling pathways crucial for normal limb development. may participate in Wnt signaling
• part of a SCF complex

Structure

• contains 1 F-box domain
• contains 4 WD repeats

Expression

expressed in brain, kidney, lung & liver

Pathology

• defects in FBXW4 are a cause of split-hand/foot malformation type 3 (SHFM3) [MIM:600095]. SHFM3 is an autosomal dominant disorder characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits

More general terms

• F-box & WD-repeat protein

Component of

• SCF-type E3 ligase complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6468
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6468
• OMIM: https://mirror.omim.org/entry/600095
• OMIM: https://mirror.omim.org/entry/608071
• UniProt: http://www.uniprot.org/uniprot/P57775.html