LRRC6

leucine rich repeat containing 6

Ensembl:
ENSG00000162927
UniProt:
Q86X45
OMIM:
614930
Synonyms:
TILB

Cilia effects upon perturbation of LRRC6

Cilia number / % ciliated:
No effect
Loss-of-function effect:
Decrease

Phenotypes

Human ciliopathy phenotype:
Primary ciliary dyskinesia, asthenozoospermia, male infertility

Ciliopathy associations

  • Male Infertility
  • Primary Ciliary Dyskinesia

Subcellular localization

cilia, cytosol

Functional category

  • Dynein arm assembly
  • Ciliary assembly/disassembly

Function

LRRC6 is essential for dynein arm assembly in motile cilia and sperm flagella. Biallelic LRRC6 mutations cause PCD (absence of ODA/IDA) and asthenozoospermia/MMAF. Loss disrupts dynein axonemal arm proteins CCDC40, SPAG1, and ZMYND10 (PMID:38934611).

Model organism evidence

Mus musculus (2 references)

LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus.

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

PMIDs: 37328841, 35955660