FBXW4
Description
The FBXW4 (F-box and WD repeat domain containing 4) is a protein-coding gene located on chromosome 10.
FBXW4 (F-box/WD repeat-containing protein 4) is a human gene encoding a protein that belongs to the F-box/WD-40 gene family. These genes recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin-mediated degradation. A highly similar protein in mice is responsible for maintaining the apical ectodermal ridge of developing limb buds, and disruption of the mouse gene leads to the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones, and syndactyly. This phenotype closely resembles split hand-split foot malformation in humans, a condition with varying modes of transmission. An autosomal recessive form of this malformation has been linked to the chromosomal region where FBXW4 resides, and complex rearrangements involving duplications of FBXW4 and other genes 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.
FBXW4 is also known as DAC, FBW4, FBWD4, SHFM3, SHSF3.
