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FBXW4 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.
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biochemical characterization of the novel F-box and WD40 (zeige DCAF12L2 Proteine) containing protein, FBXW4
a complex rearrangement associated with a approximately 0.5 Mb tandem duplication ion containing a disrupted extra copy of the DACTYLIN gene and the entire LBX1 (zeige Lbx1 Proteine) and beta-TRCP (zeige BTRC Proteine) genes.
results indicate that genomic rearrangement of SHFM3 is rare among non-syndromic SHFM patients and emphasize the importance of screening for genomic rearrangements even in sporadic cases of SHFM
Genomic rearrangements involving the SHFM3 locus at chromosome 10q24 is associated with syndromic and non-syndromic split-hand/foot malformation
Both dactylaplasia-related Dac (zeige DACH1 Proteine) insertions are caused by a type D mouse endogenous provirus (MusD) element, which can be silenced by Mda.
Dactylaplasia in mouse is not associated with duplication of Fbxw4, in contrast with the described human cases.
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.
F-box/WD repeat-containing protein 4
, F-box and WD repeat domain containing 4
, F-box and WD-40 domain protein 4
, F-box and WD-40 domain-containing protein 4
, F-box/WD repeat protein 4
, F-box protein Fbw4
, protein hagoromo