WD repeat-containing protein 34
The WDR34 gene encodes a protein that is involved in various processes of cell regulation. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 11.
Genetests:
Related Diseases:
References:
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Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
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2. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
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3. |
Huber C et al. (2013) WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.
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4. |
Gao D et al. (2009) WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway.
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5. |
NCBI article
NCBI 89891
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6. |
OMIM.ORG article
Omim 613363
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7. |
Orphanet article
Orphanet ID 371931
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Update: Aug. 14, 2020