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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Dynein, axonemal, assembly factor 1

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.[provided by RefSeq, May 2010] (from NCBI)
Papers on LRRC50
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
Amselem et al., Paris, France. In Am J Hum Genet, 2009
LRRC50, a member of the leucine-rich-repeat superfamily, has a key role in cytoplasmic preassembly of dynein arms
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
Omran et al., Freiburg, Germany. In Am J Hum Genet, 2009
LRRC50 plays a role in assembly of distinct dynein-arm complexes
LRRC50, a conserved ciliary protein implicated in polycystic kidney disease.
van Eeden et al., Utrecht, Netherlands. In J Am Soc Nephrol, 2008
It is proposed that LRRC50 to be a novel candidate gene for human cystic kidney disease, involved in regulation of microtubule-based cilia and actin-based brush border microvilli
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