Symbol: Name: ID: |
FBXW4 F-box and WD repeat domain containing 4 GFS:760 |
Gene name: | FBXW4 |
Chromosome: | 10q24 |
Previous Symbols: | SHFM3 |
Previous Names: | split hand/foot malformation (ectrodactyly) type 3, "F-box and WD-40 domain protein 4" |
Aliases: | Fbw4, dactylin |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1354698 | Rat Genome Database ID: | RGD:1306518 |
HGNC ID: | HGNC:10847 | RefSeq IDs: | NM_022039 |
Entrez Gene ID: | 6468 | Ensembl Gene ID: | ENSG00000107829 |
VEGA IDs: | OTTHUMG00000018938 | UniProt ID: | P57775 |
UCSC ID: | uc001kto.2 | OMIM ID: | 608071 |
Pubmed: | PMID8723077 PMID 7912888 | ||
CCDS IDs: | CCDSCCDS31271.1 |
F-box/WD repeat-containing protein 4 is a protein that in humans is encoded by the 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
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.
Products for FBXW4 gene
Catalog | Product Name | Application | Company |
GFS:E00760 | F-box and WD repeat domain containing 4; ELISA kit | ELISA | n/a |
GFS:A00760 | F-box and WD repeat domain containing 4; Anti | ANTIBODIES | n/a |
GFS:P00760 | F-box and WD repeat domain containing 4; Protien | Protien | n/a |