LCA5
From Infogalactic: the planetary knowledge core
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| Leber congenital amaurosis 5 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | LCA5 ; C6orf152 | ||||||||||||
| External IDs | OMIM: 611408 MGI: 1923032 HomoloGene: 32718 GeneCards: LCA5 Gene | ||||||||||||
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| 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 |
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| PubMed search | [1] | [2] | |||||||||||
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
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