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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.

external link
2.

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

external link
3.

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

external link
4.

NCBI article

NCBI 23247 external link
5.

OMIM.ORG article

Omim 616650 external link
6.

Orphanet article

Orphanet ID 448873 external link
Update: Aug. 14, 2020
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