LRRC56

Cilia effects upon perturbation of LRRC56

Cilia number / % ciliated:

No effect

Loss-of-function effect:

No effect

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=426, lfc=-0.12) PMID:30270045

Phenotypes

Mouse phenotype:

hypospermia, abnormal heart position or orientation, abnormal heartbeat, spermatogenesis defect, germ cell defect, enlarged lymph nodes, abnormal skin morphology, developmental dysplasia, abnormal lung morphology

Ciliopathy associations

• Hydrocephalus
• Male Infertility
• Mucociliary Clearance Disorder
• Primary Ciliary Dyskinesia
• Visceral Heterotaxy / Situs Inversus

References: PMID:30388400, PMID:39912490, PMID:41477643, PMID:41477643, PMID:41477643, PMID:41477643

Subcellular localization

basal body, cilia, lysosomes

Functional category

• Ciliary assembly/disassembly
• Cell migration & adhesion

Function

Interacts with the intraflagellar transport (IFT) protein IFT88. Required for the transport and addition of dynein arms to the distal end of the flagellum during cilia assembly. Mutations result in a disease entity within the group of mucociliary clearance disorders and loss of ciliary motility (30388400). LRRC56 frameshift variant causes severely dyskinetic cilia without obvious ultrastructural defects. Lrrc56-KO mice show laterality defects, male infertility, hydrocephalus, and defective mucociliary clearance. Reduces expression of MIPs and axonemal dynein assembly factors.