LCA5

lebercilin LCA5

Tier: Gold Standard Ciliary Genes

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

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

References: PMID:12642313, PMID:37240262, PMID:32428231, PMID:36369640, PMID:40598770

Subcellular localization

basal body, cilia, ciliary tip

References: PMID:41410385, PMID:41005307, PMID:29673930, PMID:21606596, PMID:18826961

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 retinal 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).