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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

LRRC50
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.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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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