ROGDI
Involvement in disease
Kohlschuetter-Toenz syndrome
KTZS
An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound intellectual disability, never acquire speech, and become bedridden early in life.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the rogdi family.
Tissue Specificity
Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressed in fetal brain and liver.
Cellular localization
- Nucleus envelope
- Presynapse
- Cell projection
- Axon
- Perikaryon
- Cell projection
- Dendrite
- Cytoplasmic vesicle
- Secretory vesicle
- Synaptic vesicle
- Detected primarily at presynaptic sites on axons, and to a lesser degree in soma and dendrites. Not detected at post-synaptic sites.
Alternative names
Protein rogdi homolog, ROGDI