WD repeat-containing protein 35
The WDR35 gene encodes a protein that is involved in various cell regulation processes. Diseases associated with that gene suggest a possible role in ciliary function. Mutations cause autosomal recessive disorders such as cranioectodermal dysplasia 2 and Short-rib thoracic dysplasia with or without polydactyly 7.
Genetests:
Related Diseases:
References:
1. |
Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
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2. |
Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
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3. |
Mill P et al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
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4. |
Kannu P et al. (2007) An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.
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5. |
Feng GG et al. (2010) Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor necrosis factor-induced apoptosis.
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6. |
NCBI article
NCBI 57539
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7. |
OMIM.ORG article
Omim 613602
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8. |
Orphanet article
Orphanet ID 239955
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Update: Aug. 14, 2020