Database of mammalian genes
Home

Home Search Browse RAGs User guide FAQs Links Questions Contribute

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for FBXW4 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6468
Official gene symbolFBXW4
Full nameF-box and WD repeat domain containing 4
Aliases,DAC,FBW4,FBWD4,SHFM3,SHSF3,
Gene summaryThis 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]
LocationChromosome: 10   Locus: 10q24
Gene position103454743 - 103370421  Map Viewer
Gene orientationminus
Gene size84323 bp
Gene sequence
OMIM ID608071