Biology:FBXW4

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

F-box/WD repeat-containing protein 4 is a protein that in humans is encoded by the FBXW4 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

• "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. 1999. doi:10.1006/bbrc.1999.0963. PMID 10405324. 
• "cDNA cloning and expression analysis of new members of the mammalian F-box protein family.". Genomics 67 (1): 40–7. 2001. doi:10.1006/geno.2000.6211. PMID 10945468. 
• "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "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. 2004. doi:10.1093/hmg/ddg212. PMID 12913067. 
• "Split hand foot malformation is associated with a reduced level of Dactylin gene expression.". Clin. Genet. 64 (4): 350–4. 2004. doi:10.1034/j.1399-0004.2003.00153.x. PMID 12974740. 
• "Degradation of Cdc25A by beta-TrCP during S phase and in response to DNA damage.". Nature 426 (6962): 87–91. 2003. doi:10.1038/nature02082. PMID 14603323. Bibcode: 2003Natur.426...87B. 
• "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. 2004. doi:10.1002/ajmg.a.20348. PMID 14699611. 
• "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039. 
• "The DNA sequence and comparative analysis of human chromosome 10.". Nature 429 (6990): 375–81. 2004. doi:10.1038/nature02462. PMID 15164054. Bibcode: 2004Natur.429..375D. 
• "Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM).". Mol. Cells 17 (3): 397–403. 2004. PMID 15232212. 
• "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation.". Hum. Genet. 118 (3–4): 477–83. 2006. doi:10.1007/s00439-005-0074-0. PMID 16235095. 
• "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. 2006. doi:10.1002/ajmg.a.31246. PMID 16761290.