FBXW4

F-box and WD repeat domain containing 4
Identifiers
Symbols	FBXW4 ; DAC; FBW4; FBWD4; SHFM3; SHSF3
External IDs	Template:OMIM5 Template:MGI HomoloGene: 32197
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

F-box and WD repeat domain containing 4, also known as FBXW4, is a human gene.

This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22.

Further reading

• Palmer SE, Scherer SW, Kukolich M; et al. (1994). "Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation". Am. J. Hum. Genet. 55 (1): 21–6. PMID 7912888.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gurrieri F, Prinos P, Tackels D; et al. (1996). "A split hand-split foot (SHFM3) gene is located at 10q24-->25". Am. J. Med. Genet. 62 (4): 427–36. doi:10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q. PMID 8723077.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ianakiev P, Kilpatrick MW, Dealy C; et al. (1999). "A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24". Biochem. Biophys. Res. Commun. 261 (1): 64–70. doi:10.1006/bbrc.1999.0963. PMID 10405324.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ilyin GP, Rialland M, Pigeon C, Guguen-Guillouzo C (2001). "cDNA cloning and expression analysis of new members of the mammalian F-box protein family". Genomics. 67 (1): 40–7. doi:10.1006/geno.2000.6211. PMID 10945468.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• de Mollerat XJ, Gurrieri F, Morgan CT; et al. (2004). "A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24". Hum. Mol. Genet. 12 (16): 1959–71. PMID 12913067.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Basel D, DePaepe A, Kilpatrick MW, Tsipouras P (2004). "Split hand foot malformation is associated with a reduced level of Dactylin gene expression". Clin. Genet. 64 (4): 350–4. PMID 12974740.CS1 maint: Multiple names: authors list (link)
• Busino L, Donzelli M, Chiesa M; et al. (2003). "Degradation of Cdc25A by beta-TrCP during S phase and in response to DNA damage". Nature. 426 (6962): 87–91. doi:10.1038/nature02082. PMID 14603323.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Roscioli T, Taylor PJ, Bohlken A; et al. (2004). "The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype". Am. J. Med. Genet. A. 124 (2): 136–41. doi:10.1002/ajmg.a.20348. PMID 14699611.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Deloukas P, Earthrowl ME, Grafham DV; et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kang YS, Cheong HM, Moon Y; et al. (2004). "Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM)". Mol. Cells. 17 (3): 397–403. PMID 15232212.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kano H, Kurosawa K, Horii E; et al. (2006). "Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation". Hum. Genet. 118 (3–4): 477–83. doi:10.1007/s00439-005-0074-0. PMID 16235095.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Everman DB, Morgan CT, Lyle R; et al. (2006). "Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation". Am. J. Med. Genet. A. 140 (13): 1375–83. doi:10.1002/ajmg.a.31246. PMID 16761290.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)