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WD repeat-containing protein 1

The WDR1 gene encodes an WD repeat protein that inteacts with other protein, in particualr actin, in the formation of the inflammasome. Mutations cause autosomal recessive autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT).

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:

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
WDR1

References:

1.

Adler HJ et al. (1999) A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein.

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2.

Kile BT et al. (2007) Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia.

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3.

Standing AS et al. (2017) Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.

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4.
Update: Aug. 14, 2020
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