Intraflagellar transport protein 43 homolog
The IFT43 gene encodes a subunit of the intraflagellar transport complex A (IFT-A) which plays a role in cilia assambly. Mutations cause autosomal recessive cranioectodermal dysplasia 3.
Genetests:
Related Diseases:
References:
1. |
Walczak-Sztulpa J et al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
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2. |
Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
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3. |
Arts HH et al. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
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4. |
NCBI article
NCBI 112752
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5. |
OMIM.ORG article
Omim 614068
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6. |
Orphanet article
Orphanet ID 270002
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Update: Aug. 14, 2020