TBC1D2B

TBC1D2B (TBC1 Domain Family Member 2B) is a Protein Coding gene. Gene Ontology (GO) annotations related to TBC1D2B include GTPase activator activity. An important paralog of TBC1D2B is TBC1D2.

TBC1 Domain Family Member 2B

GTPase-activating protein that plays a role in the early steps of endocytosis (PubMed:32623794).

Biological Process activation of GTPase activityIBA:GO_Central1 Publication
Biological Process endocytosisIMP:UniProtKB1 Publication

Early endosome

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.