LCA5

lebercilin LCA5

Ensembl:
ENSG00000135338
UniProt:
Q86VQ0
OMIM:
611408
Synonyms:
C6ORF152

Cilia effects upon perturbation of LCA5

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
Leber congenital amaurosis; Leber congenital amaurosis 5; retinitis pigmentosa

Ciliopathy associations

  • Leber Congenital Amaurosis

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone

Function

Essential for the trafficking of proteins and vesicles to the photoreceptor outer segment. Mutations cause reti l degeneration, including cone dystrophy and autosomal recessive retinitis pigmentosa (29673930, 21606596, 18826961). Interacts with a nearly complete IFT complex B particle, as well as with some IFT complex A proteins (21606596).

Model organism evidence

Danio rerio (1 reference)

This gene encodes a ciliary protein called LCA5 that is localized to the connecting cilium of photoreceptors.

PMIDs: 31348989