Anti-FBXW4 monoclonal antibody (DCABH-11542) Made to order

Rabbit anti-Human FBXW4 monoclonal antibody for WB, ELISA

View other FBXW4 antibodies

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human FBXW4 is used for rabbit immunization.
Conjugate
Unconjugated

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
Entrez Gene ID
UniProt ID

Product Background


Gene summary
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 Transport to the Golgi and subsequent modification and Chaperonin-mediated protein folding. 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.
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. Split-hand/foot malformation 3 (SHFM3) [MIM:246560]: A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. Note=The disease is caused by mutations affecting the gene represented in this entry. F-box/WD repeat-containing protein 4 is a protein that in humans is encoded by the FBXW4 gene. 0The function about FBXW4 antigen include molecular_function.
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


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