Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein TALPID3

The KIAA0586 gene encodes a microsomal protein that is involved in ciliogenesis and hedgehog signaling. Mutations cause autosomal recessive Joubert syndrome 23 and Short-rib thoracic dysplasia with or without polydactyly 14.

Genetests:

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

Related Diseases:

Joubert syndrome 23
KIAA0586
Short-rib thoracic dysplasia with or without polydactyly 14
KIAA0586

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.

Davey MG et. al. (2006) The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling.

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3.

Bachmann-Gagescu R et. al. (2015) KIAA0586 is Mutated in Joubert Syndrome.

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4.

Alby C et. al. (2015) Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

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Update: Sept. 26, 2018