Thermo Fisher Scientific KIAA0556 Polyclonal Antibody

Applications

Western Blot (WB)

• Tested Dilution: 1.0 µg/mL

Product Specifications

Product Specific Information

This target displays homology in the following species:

• Human: 100%

Target Information

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 overexpressed.
A mutation in this gene has been associated with Joubert syndrome, a recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, often associated with broader ciliopathy symptoms. In serum-starvation ciliogenesis assays, fibroblast cells derived from patients with the mutation show reduced numbers of ciliated cells with abnormally long cilia.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.