Dynein axonemal assembly factor 5

Definition:

Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

References:

[1]. Christine P Diggle, et al. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. PLoS Genet. 2014 Sep 18;10(9):e1004577. [Content Brief]

[2]. Amjad Horani, et al. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2012 Oct 5;91(4):685-93. [Content Brief]

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