LCA5

LCA5
Identifiers
Aliases	LCA5, C6orf152, Leber congenital amaurosis 5, lebercilin
External IDs	MGI: 1923032 HomoloGene: 32718 GeneCards: LCA5
Gene ontology Molecular function • protein complex binding • protein binding Cellular component • cytoplasm • cell projection • cilium • cytoskeleton • microtubule organizing center Biological process • protein transport • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	167691	75782
Ensembl	ENSG00000135338	ENSMUSG00000032258
UniProt	Q86VQ0	Q80ST9
RefSeq (mRNA)	NM_001122769 NM_181714	NM_027448 NM_029434
RefSeq (protein)	NP_001116241.1 NP_859065.2	NP_081724.1 NP_083710.2
Location (UCSC)	Chr 6: 79.48 – 79.54 Mb	Chr 9: 83.39 – 83.44 Mb
PubMed search	[1]	[2]
Wikidata

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Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by the LCA5 gene.^[3][4][5] 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. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: Leber congenital amaurosis 5".
4. 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.
5. 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.