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Our study not only further supported the importance of LRRC6 in Primary ciliary dyskinesia (PCD), but also expanded the spectrum of LRRC6 mutations and will contribute to the genetic diagnosis and counseling of PCD patients.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
LRRC6 plays a role in dynein arm assembly or trafficking and when mutated leads to primary ciliary dyskinesia with laterality defects.
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
the Reptin-Lrrc6/Seahorse complex is involved in dynein arm formation.
Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways.
the function of seahorse in cilia motility is separable from its function in other cilia-related phenotypes
The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Two transcript variants, one protein-coding and the other not, have been found for this gene.
leucine-rich repeat-containing 6 (testis)
, leucine-rich repeat-containing protein 6
, leucine-rich testis-specific protein
, protein TILB homolog
, protein tilB homolog
, testis-specific leucine-rich repeat protein
, leucine rich repeat containing 6 (testis)
, leucine-rich repeat-containing 6 like
, leucine-rich repeat-containing 6-like protein
, unm tg238a