Dynein axonemal assembly factor 1

Definition:

Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli.

References:

[1]. Ellen van Rooijen, et al. LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. J Am Soc Nephrol. 2008 Jun;19(6):1128-38. [Content Brief]

[2]. Niki Tomas Loges, et al. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 2009 Dec;85(6):883-9. [Content Brief]

[3]. Philippe Duquesnoy, et al. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am J Hum Genet. 2009 Dec;85(6):890-6. [Content Brief]

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