WD repeat-containing protein 19
The WDR19 gene encodes a ciliary protein that is responsible for intraflagellar transport. Mutations cause various recessive ciliopathies such as Senior-Loken syndrome 8, and Nephronophthisis 13.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
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2. |
Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
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3. |
Coussa RG et al. (2013) WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
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4. |
de Vries J et al. (2010) Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.
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5. |
Lin B et al. (2003) Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.
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6. |
NCBI article
NCBI 57728
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7. |
OMIM.ORG article
Omim 608151
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8. |
Orphanet article
Orphanet ID 285468
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Update: Aug. 14, 2020