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E-AB-18186

KIAA0556 Polyclonal Antibody

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£106.20

Was £118.00

SKU:
E-AB-18186
Additional Names:
K0556,KIAA0556,Uncharacterized protein KIAA0556
Application:
IHC
Concentration:
0.96 mg/ml
Purification:
Affinity Purified
Storage Conditions:
-20[o]C Avoid freeze/thaw cycles.
Supplier:
Elabscience
Host:
Rabbit
Reactivities:
Human, Mouse
Buffer:
Phosphate buffered solution, pH 7.4, containing 0.05% stabilizer and 50% glycerol.
Immunogen:
Synthetic peptide of human KIAA0556
Uniprot:
O60303
Synonyms:
JBTS26;katanin-interacting protein;KIAA0556
Extra Details:
This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia.
Shipping Conditions:
Blue Ice