The KIAA0556 gene encodes a ciliary protein that is found at the base and at the tip of cilia. Mutations cause autosomal recessive Joubert syndrome 26.
Nagase T et. al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Sanders AA et. al. (2015) KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Roosing S et. al. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Update: Oct. 11, 2018