Bioinformatics Database
ROGDI: Rogdi atypical leucine zipper
3D Protein Structure Viewer
Cellular Process
Enamel formation
Gene Name
ROGDI: Rogdi atypical leucine zipper
Gene ID
79641
Gene Sequence
General Description
This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants.
Alternative titles; symbols
ROGDI, DROSOPHILA, HOMOLOG OF
Chromosome
Chromosome 16
Cytogenetic location
16p13.3
Encoded Protein
Protein rogdi homolog
Function of the protein in oral and tooth development
This gene encodes a protein of unknown function. However, loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome, characterized by the triad of amelogenesis imperfect, infantile onset epilepsy , intellectual disability with or without regression and dementia.
Dental and Oral Diseases
Kohlschutter-Tonz syndrome
(OMIM ID: 614574)
Kohlschutter-Tonz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy , intellectual disability with or without regression and dementia.
Protein Sequence
>NP_078865.1 protein rogdi homolog [Homo sapiens]
MATVMAATAAERAVLEEEFRWLLHDEVHAVLKQLQDILKEASLRFTLPGSGTEGPAKQENFILGSCGTDQ
VKGVLTLQGDALSQADVNLKMPRNNQLLHFAFREDKQWKLQQIQDARNHVSQAIYLLTSRDQSYQFKTGA
EVLKLMDAVMLQLTRARNRLTTPATLTLPEIAASGLTRMFAPALPSDLLVNVYINLNKLCLTVYQLHALQ
PNSTKNFRPAGGAVLHSPGAMFEWGSQRLEVSHVHKVECVIPWLNDALVYFTVSLQLCQQLKDKISVFSS
YWSYRPF
Mutations
Related Literature
Lee et al., (2017): https://doi.org/10.1038/s41598-017-04120-x