CEP85L
| 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]
See also
- Centrosome - the product of the gene localizes in the centrosome
Sources
- ^ 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.
- ^ 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. PMID 32097630.