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IFT43 / C14orf179 is a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Gene Name: | intraflagellar transport 43 homolog (Chlamydomonas) |
Synonyms: | IFT43, C14orf179, CED3, IFT complex A subunit |
Target Sequences: | NM_001102564 NP_001096034.1 Q96FT9 |
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