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The protein encoded by LRRC50 is cilium-specific and is required for the stability of the ciliary architecture. Zusätzlich bieten wir Ihnen Leucine Rich Repeat Containing 50 Antikörper (39) und Leucine Rich Repeat Containing 50 Kits (7) und viele weitere Produktgruppen zu diesem Protein an.
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Mutations in Dnaaf1 cause hydrocephalus, laterality defects, and sinusitis.
LRRC50 plays a role in assembly of distinct dynein-arm complexes
The most significantly mutated cilia-microtubule gene in testicular germ cell tumors is DNAAF1 with biallelic inactivation and loss of DNAAF1 expression shown in tumors from carriers.
our findings here demonstrate that mutations in the motile cilia gene DNAAF1 could contribute to the pathogenesis of NTDs.
LRRC50, a member of the leucine-rich-repeat superfamily, has a key role in cytoplasmic preassembly of dynein arms
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
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.
dynein assembly factor 1, axonemal
, leucine rich repeat containing 50
, leucine-rich repeat-containing protein 50
, outer row dynein assembly 7 homolog
, switch hitter
, unm tm317b