LCA5

LCA5
Identifiers
Aliases	LCA5 , C6orf152, Leber congenital amaurosis 5, lebercilin, lebercilin LCA5
External IDs	OMIM: 611408; MGI: 1923032; HomoloGene: 32718; GeneCards: LCA5; OMA:LCA5 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6q14.1 Start 79,484,991 bp [1] End 79,537,458 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 E2 Start 83,272,346 bp [2] End 83,323,180 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of paranasal sinus bronchial epithelial cell caput epididymis testicle Achilles tendon secondary oocyte right uterine tube ventricular zone ganglionic eminence gonad Top expressed in superior cervical ganglion neural layer of retina hand spermatid tail of embryo genital tubercle spermatocyte zygote trigeminal ganglion retinal pigment epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding protein-containing complex binding Cellular component cytoplasm cell projection cilium cytoskeleton microtubule organizing center axoneme photoreceptor connecting cilium 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_181714 NM_027448 NM_029434 RefSeq (protein) NP_001116241 NP_859065 NP_081724 NP_083710 Location (UCSC) Chr 6: 79.48 – 79.54 Mb Chr 9: 83.27 – 83.32 Mb PubMed search [3] [4]
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. ^{[5] [6] [7]} 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. GRCh38: Ensembl release 89: ENSG00000135338 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032258 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Leber congenital amaurosis 5".
6. 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.
7. 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. S2CID   13772221.