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The TTC30A gene encodes for the Tetratricopeptide Repeat Domain 30A, which is part of the intraflagellar transport (IFT) complex B, critical for ciliary function. TTC30A and its paralog TTC30B are involved in the stability and functioning of the IFT complex. These proteins play a redundant role in maintaining cilia integrity, necessary for proper cellular signaling and homeostasis. Disruption of TTC30A, through CRISPR/Cas9 gene editing, has shown to impair ciliogenesis, leading to developmental defects such as limb malformations and polycystic kidney disease due to altered tubulin acetylation and ciliary transport. This highlights the importance of TTC30A in cellular and developmental processes.
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Protein Aliases: Intraflagellar transport protein 70A; Tetratricopeptide repeat protein 30A; TPR repeat protein 30A
Gene Aliases: IFT70A; TTC30A
UniProt ID: (Human) Q86WT1
Entrez Gene ID: (Human) 92104
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