TBC1D2B
Function
GTPase-activating protein that plays a role in the early steps of endocytosis (PubMed:32623794).
Involvement in disease
Neurodevelopmental disorder with seizures and gingival overgrowth
NEDSGO
An autosomal recessive disorder with variable clinical manifestations including delayed development, hypotonia, seizures, gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Some patients have early normal development followed by developmental regression. Additional variable features are coarse facial features, optic atrophy, sensorineural hearing loss, and ataxia. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Early endosome
Alternative names
KIAA1055, TBC1D2B, TBC1 domain family member 2B