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:
Related Diseases:
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.
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3. |
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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4. |
Davey MG et al. (2006) The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling.
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5. |
NCBI article
NCBI 9786
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6. |
OMIM.ORG article
Omim 610178
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7. |
Orphanet article
Orphanet ID 435787
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Update: Aug. 14, 2020