LCA5

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
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View/Edit Human

Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by the LCA5 gene.[1][2][3] This protein is thought to be involved in centrosomal or ciliary functions.

Clinical significance

Mutations in the LCA5 gene are associated with Leber's congenital amaurosis.

References

  1. "Entrez Gene: Leber congenital amaurosis 5".
  2. Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH (January 2000). "A novel locus for Leber congenital amaurosis maps to chromosome 6q". Am. J. Hum. Genet. 66 (1): 319–26. doi:10.1086/302719. PMC 1288337. PMID 10631161.
  3. den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R (July 2007). "Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis". Nat. Genet. 39 (7): 889–95. doi:10.1038/ng2066. PMID 17546029.



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