Biology:CEP85L
From HandWiki
| Centrosomal Protein 85kDa-Like | |
|---|---|
| Identifiers | |
| Symbol | CEP85L |
| OMIM | 618865 |
| Other data | |
| Locus | Chr. 6 q22.31 |
CEP85L, for "Centrosomal Protein 85kDa-Like"[1] is a gene which encodes a protein that has been identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. It has been shown to be related to the QT interval in GWAS studies.[2]
Pathology
Mutations of the CEP85L gene were associated with posterior predominant lissencephaly in a 2020 study,[3] added under #618873 in the OMIM catalogue, where it received the name of lissencephaly 10.
See also
- Centrosome - the product of the gene localizes in the centrosome
Sources
- ↑ Database, GeneCards Human Gene. "CEP85L Gene - GeneCards | CE85L Protein | CE85L Antibody". https://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85L.
- ↑ "Genetic variation in SCN10A influences cardiac conduction". Nature Genetics 42 (2): 149–52. February 2010. doi:10.1038/ng.516. PMID 20062061.
- ↑ "Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly". Neuron 106 (2): 237–245.e8. April 2020. doi:10.1016/j.neuron.2020.01.027. PMID 32097630.
 |  |
- ↑ Kodani, Andrew; Kenny, Connor; Lai, Abbe; Gonzalez, Dilenny M.; Stronge, Edward; Sejourne, Gabrielle M.; Isacco, Laura; Partlow, Jennifer N. et al. (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. PMID 32097629.
