Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein KIAA0556

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.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

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