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).