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Trafficking protein particle complex subunit 6B (TRAPPC6B)

Target: TRAPPC6B
Molecular classification: Other (Vesicle trafficking protein; not a receptor, ion channel, enzyme, transporter, or transcription factor), TRAPP complex small subunits family, BET3 subfamily

Overview

Trafficking protein particle complex subunit 6B (TRAPPC6B) is a small protein component of the TRAPP (trafficking protein particle) complex that facilitates vesicle tethering and intracellular membrane trafficking, particularly in the endoplasmic reticulum to Golgi apparatus transport pathway. TRAPPC6B is notably involved in early neural development, influencing differentiation and survival of neurons, potentially through effects on intracellular calcium signaling. Mutations in TRAPPC6B are linked to a rare autosomal recessive neurodevelopmental disorder characterized by microcephaly, severe developmental delays, and epilepsy, with notable brain atrophy observed in affected individuals. TRAPPC6B belongs to the TRAPP small subunits family (BET3 subfamily), and is ubiquitously expressed, with higher predominance in neural tissues. There are currently no approved drugs targeting this protein, nor is it classified as a conventional therapeutic target.

Other names: Trafficking protein particle complex subunit 6BTRAPP complex subunit 6BTRAPPC6BBET3 subfamily

Biological functions

Intracellular vesicle trafficking (especially ER-to-Golgi)Regulation of neuron differentiation and survivalControl of neural circuitry development via modulation of calcium signaling

Disease associations

Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA)Associated features: global developmental delay, intellectual disability, hypotonia, seizures, autistic features

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