Gene TOE1 : target of EGR1, member 1 (nuclear) in Equus caballus |
See the equivalent entry at NCBI |
Symbol:
TOE1
Description:
target of EGR1, member 1 (nuclear)
Type of gene:
protein-coding
NCBI gene id:
100052538
Other designations:
target of EGR1 protein 1|target of EGR1, member 1 (nuclear)
Links:
Ensembl
Genomic location:
2:13044707..13041159 [Chromosome accession
NC_091685.1]
Related phenes:
OMIA:000175-9796 : Cerebellar abiotrophy in
Equus caballus
Reference
| 2017 | Lardelli, R.M., Schaffer, A.E., Eggens, V.R., Zaki, M.S., Grainger, S., Sathe, S., Van Nostrand, E.L., Schlachetzki, Z., Rosti, B., Akizu, N., Scott, E., Silhavy, J.L., Heckman, L.D., Rosti, R.O., Dikoglu, E., Gregor, A., Guemez-Gamboa, A., Musaev, D., Mande, R., Widjaja, A., Shaw, T.L., Markmiller, S., Marin-Valencia, I., Davies, J.H., de Meirleir, L., Kayserili, H., Altunoglu, U., Freckmann, M.L., Warwick, L., Chitayat, D., Blaser, S., Çağlayan, A.O., Bilguvar, K., Per, H., Fagerberg, C., Christesen, H.T., Kibaek, M., Aldinger, K.A., Manchester, D., Matsumoto, N., Muramatsu, K., Saitsu, H., Shiina, M., Ogata, K., Foulds, N., Dobyns, W.B., Chi, N.C., Traver, D., Spaccini, L., Bova, S.M., Gabriel, S.B., Gunel, M., Valente, E.M., Nassogne, M.C., Bennett, E.J., Yeo, G.W., Baas, F., Lykke-Andersen, J., Gleeson, J.G. : |
| Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49:457-464, 2017. Pubmed reference: 28092684. DOI: 10.1038/ng.3762. |