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.


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
Short-rib thoracic dysplasia with or without polydactyly 14



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.


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


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


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

Update: Sept. 26, 2018