intraflagellar transport protein 52 homolog
The IFT52 gene encodes a protein that is member of the intraflagellar transport complex B. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 16.
Genetests:
Related Diseases:
References:
1. |
Girisha KM et al. (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
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2. |
Zhang W et al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
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3. |
NCBI article
NCBI 51098
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4. |
OMIM.ORG article
Omim 617094
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5. |
Orphanet article
Orphanet ID 470484
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Update: Aug. 14, 2020