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The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: dynein (axonemal) assembly factor 1; Dynein axonemal assembly factor 1; dynein, axonemal, assembly factor 1; Leucine-rich repeat-containing protein 50; outer row dynein assembly 7 homolog; testicular tissue protein Li 110
Gene Aliases: CILD13; DNAAF1; LRRC50; ODA7
UniProt ID: (Human) Q8NEP3
Entrez Gene ID: (Human) 123872
Molecular Function:
protein-binding activity modulator
phosphatase modulator
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