LRRC46

leucine rich repeat containing 46

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

Cilia effects upon perturbation of LRRC46

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

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).

Model organism evidence

Mus musculus (1 reference)

LRRC46 Accumulates at the Midpiece of Sperm Flagella and Is Essential for Spermiogenesis and Male Fertility in Mouse.

PMIDs: 35955660

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.