Bioinformatics Database

ROGDI: Rogdi atypical leucine zipper

ROGDI: Rogdi atypical leucine zipper
3D Protein Structure Viewer​
Cellular Process
Enamel formation
Gene Name
ROGDI: Rogdi atypical leucine zipper
Gene ID
79641
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
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
Cellular Pathway