Trafficking protein particle complex subunit 6B
Function
Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic (PubMed:16025134, PubMed:16828797). 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).
Involvement in disease
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
NEDMEBA
An autosomal recessive neurodevelopmental disorder characterized by microcephaly, global developmental delay, hypotonia, intellectual disability, autistic features such as poor social interaction, language impairment and repetitive automatism behaviors, and generalized tonic-clonic seizures. Brain imaging shows cortical atrophy, thin corpus callosum, and cerebellar and brainstem atrophy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TRAPP small subunits family. BET3 subfamily.
Tissue Specificity
Both isoforms are expressed ubiquitously (at transcript level), isoform 1 being the most predominant (PubMed:28626029). Expressed in the fetal brain and different regions of the adult brain and spinal cord (PubMed:28626029).
Cellular localization
- Golgi apparatus
- cis-Golgi network
- Endoplasmic reticulum
Alternative names
Trafficking protein particle complex subunit 6B, TRAPP complex subunit 6B, TRAPPC6B