From Wikipedia, the free encyclopedia
Centrosomal protein of 85 kDa-like is a protein that in humans is encoded by the CEP85L gene .[ 5] QT interval in GWAS studies .[ 6] centrosome .
Mutations of the CEP85L gene are associated with a type of posterior predominant lissencephaly [ 7] [ 8]
1 2 3 GRCh38: Ensembl release 89: ENSG00000111860 – Ensembl , May 20171 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038594 – Ensembl , May 2017↑ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .↑ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .↑ Database, GeneCards Human Gene. "CEP85L Gene - GeneCards | CE85L Protein | CE85L Antibody" . www.genecards.org . ↑ Chambers JC, Zhao J, Terracciano CM, Bezzina CR, Zhang W, Kaba R, et al. (February 2010). "Genetic variation in SCN10A influences cardiac conduction". Nature Genetics . 42 (2): 149– 52. doi :10.1038/ng.516 . PMID 20062061 . S2CID 39153818 . ↑ Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, et al. (April 2020). "Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly" . Neuron . 106 (2): 237–245.e8. doi :10.1016/j.neuron.2020.01.027 . PMC 7357395 PMID 32097630 . ↑ "LISSENCEPHALY 10; LIS10" . Johns Hopkins University. Retrieved 2026-09-12 .
Kodani, Andrew; Kenny, Connor; Lai, Abbe; Gonzalez, Dilenny M.; Stronge, Edward; Sejourne, Gabrielle M.; Isacco, Laura; Partlow, Jennifer N.; O'Donnell, Anne; McWalter, Kirsty; Byrne, Alicia B. (22 April 2020). "Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5" . Neuron . 106 (2): 246–255.e6. doi :10.1016/j.neuron.2020.01.030 . ISSN 1097-4199 . PMC 7255387 PMID 32097629 .
