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Rabbit Anti-SHFM3/FITC Conjugated antibody
background:
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.
Involvement in disease:Defects in FBXW4 are a cause of split-hand/foot malformation type 3 (SHFM3) . SHFM3 is an autosomal dominant disorder characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits.
Function:
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.
Subunit:
Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity).
Subcellular Location:
Expressed in brain, kidney, lung and liver.
Tissue Specificity:
Expressed in brain, kidney, lung and liver.
DISEASE:
Defects in FBXW4 are a cause of split-hand/foot malformation type 3 (SHFM3) [MIM:246560]. SHFM3 is an autosomal dominant disorder characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits.
Similarity:
Contains 1 F-box domain.
Contains 4 WD repeats.
Database links:
Entrez Gene: 6468 Human
Omim: 608071 Human
SwissProt: P57775 Human
Unigene: 500822 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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