LRRC46

leucine rich repeat containing 46

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000141294
UniProt:
Q96FV0
OMIM:
620927
Synonyms:
MGC16309

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.11) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Subcellular localization

flagella, cilia, basal body

References: PMID:41410385, PMID:42010243, PMID:41005307, PMID:23527195, PMID:23122589, PMID:35955660

Functional category

  • Ciliary assembly/disassembly
  • Reproduction & sperm

Function

Leucine-rich repeat containing 46 (LRRC46) is one of the the multiple morphological abnormalities of the flagella (MMAF)-related protein and specifically expressed in the testes of adult mice, and show that LRRC46 is essential for sperm flagellum biogenesis. The mutation of Lrrc6, an important paralog of Lrrc46, causes 10.6% primary ciliary dyskinesia by the absence of dynein arm components (23527195 , 23122589). Knockout of Lrrc46 in mice resulted in typical MMAF phenotypes, including sperm with short, coiled, and irregular flagella(35955660).