LCA5

Leber congenital amaurosis 5
Identifiers
Symbols	LCA5 ; C6orf152
External IDs	OMIM: 611408 MGI: 1923032 HomoloGene: 32718 GeneCards: LCA5 Gene
Gene ontology Molecular function • protein binding • protein complex binding Cellular component • cilium • axoneme • ciliary basal body Biological process • protein transport • intraciliary transport • photoreceptor cell maintenance Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	167691	75782
Ensembl	ENSG00000135338	ENSMUSG00000032258
UniProt	Q86VQ0	Q80ST9
RefSeq (mRNA)	NM_001122769	NM_027448
RefSeq (protein)	NP_001116241	NP_081724
Location (UCSC)	Chr 6: 79.48 – 79.54 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.