KIAA0556 Polyclonal Antibody

Background:
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.

Research Area: Cell Biology

Synonyms:
K0556, KIAA0556, Uncharacterized protein KIAA0556

Immunogen: Synthetic peptide of human KIAA0556

Swissprot: O60303
Gene Accession: NP056017

Purification Method: Antigen affinity purification

Buffer: PBS with 0.05% NaN3 and 40% Glycerol, pH7.4

Concentration: 1.26 mg/mL
Dilution: IHC 1:100-1:200, ELISA 1:5000-1:10000

Storage:
Store at -20°C. Avoid freeze / thaw cycles.