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.

Genetests:

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
KIAA0556

References:

1.

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.

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2.

Sanders AA et. al. (2015) KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

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3.

Roosing S et. al. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

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Update: Oct. 11, 2018