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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 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 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.

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

external link
3.

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

external link
4.

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

external link
5.

NCBI article

NCBI 9786 external link
6.

OMIM.ORG article

Omim 610178 external link
7.

Orphanet article

Orphanet ID 435787 external link
Update: Aug. 14, 2020
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