TBC1 domain family member 2B

Definition:

GTPase-activating protein that plays a role in the early steps of endocytosis.

References:

[1]. Frederike L Harms, et al. Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Hum Mutat. 2020 Sep;41(9):1645-1661. [Content Brief]

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