Trafficking protein particle complex subunit 6B

Definition:

Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic. Specifically involved in the early development of neural circuitry, likely by controlling the frequency and amplitude of intracellular calcium transients implicated in the regulation of neuron differentiation and survival (Probable).

References:

[1]. Daniel Kümmel, et al. The structure of the TRAPP subunit TPC6 suggests a model for a TRAPP subcomplex. EMBO Rep. 2005 Aug;6(8):787-93. [Content Brief]

[2]. Daniel Kümmel, et al. Structure of the Bet3-Tpc6B core of TRAPP: two Tpc6 paralogs form trimeric complexes with Bet3 and Mum2. J Mol Biol. 2006 Aug 4;361(1):22-32. [Content Brief]

[3]. Isaac Marin-Valencia, et al. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet. 2018 Jan;55(1):48-54. [Content Brief]

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