LCA5

Leber congenital amaurosis 5
Identifiers
SymbolsLCA5 ; C6orf152
External IDsOMIM: 611408 MGI: 1923032 HomoloGene: 32718 GeneCards: LCA5 Gene
Orthologs
SpeciesHumanMouse
Entrez16769175782
EnsemblENSG00000135338ENSMUSG00000032258
UniProtQ86VQ0Q80ST9
RefSeq (mRNA)NM_001122769NM_027448
RefSeq (protein)NP_001116241NP_081724
Location (UCSC)Chr 6:
80.19 – 80.25 Mb		Chr 9:
83.39 – 83.44 Mb
PubMed search

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.