Specifications
Immunogen
A synthetic peptide of human FBXW4 is used for rabbit immunization.
Target
Alternative Names
FBXW4; F-box and WD repeat domain containing 4; F box and WD 40 domain protein 4 , SHFM3, split hand/foot malformation (ectrodactyly) type 3; F-box/WD repeat-containing protein 4; dactylin; Fbw4; F-box/WD repeat protein 4; F-box and WD-40 domain protein 4
Product Background
Antigen Description
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.
Pathway
Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystem; Chaperonin-mediated protein folding, organism-specific biosystem; Metabolism of proteins, organism-specific biosystem; Protein folding, organism-specific biosystem.
Citations
Publication ()
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