The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 54 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
FunctionMay play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility.
Tissue specificityExpressed predominantly in testis and in nasal epithelial cells.
Involvement in diseaseDefects in LRRC6 are the cause of primary ciliary dyskinesia 19 (CILD19) [MIM:614935]. A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Sequence similaritiesBelongs to the tilb protein family. Contains 1 CS domain. Contains 4 LRR (leucine-rich) repeats. Contains 1 LRRCT domain.