KIAA0556
Reactivité: Humain, Souris
Hôte: Lapin
Polyclonal
Alexa Fluor 594
Indications d'application
IHC 1:50-1:200, ELISA 1:5000-1:10000
Restrictions
For Research Use only
Format
Liquid
Concentration
0.96 mg/mL
Buffer
PBS with 0.05 % Sodium azide and 40 % Glycerol, pH 7.4
Agent conservateur
Sodium azide
Précaution d'utilisation
This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Stock
-20 °C
Stockage commentaire
Store at -20°C. Avoid freeze / thaw cycles.
Antigène
KIAA0556
Autre désignation
KIAA0556
Sujet
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.