Aliases for FBXW4 Gene
External Ids for FBXW4 Gene
Previous HGNC Symbols for FBXW4 Gene
Previous GeneCards Identifiers for FBXW4 Gene
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]
GeneCards Summary for FBXW4 Gene
FBXW4 (F-Box And WD Repeat Domain Containing 4) is a Protein Coding gene. Diseases associated with FBXW4 include Split-Hand/Foot Malformation 3 and Split Hand. Among its related pathways are Chaperonin-mediated protein folding and Innate Immune System.
UniProtKB/Swiss-Prot for FBXW4 Gene
Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling.