FBXW4, Official Symbol FBXW4provided by HGNC Official Full Name F-box and WD repeat domain containing 4provided by HGNC Primary source HGNC:HGNC:10847 See related Ensembl:ENSG00000107829 MIM:608071; AllianceGenome:HGNC:10847 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DAC; FBW4; FBWD4; SHFM3; SHSF3 Summary 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 17.7), lung (RPKM 17.4) and 25 other tissues See more Orthologs mouse all