TRAPPC9

This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

Full Name

TRAPPC9 Gene(Protein Coding) Trafficking Protein Particle Complex 9

Function

Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Biological Process

Biological Process cerebral cortex development Source:GO_Central1 Publication
Biological Process endoplasmic reticulum to Golgi vesicle-mediated transport Source:ComplexPortal1 Publication
Biological Process neuron differentiation Source:Ensembl
Biological Process positive regulation of NF-kappaB transcription factor activity Source:Ensembl
Biological Process vesicle coating Source:ComplexPortal1 Publication
Biological Process vesicle tethering Source:ComplexPortal1 Publication

Cellular Location

Golgi apparatus, cis-Golgi network
Endoplasmic reticulum
Cytoplasm
Processes and cell bodies of neurons.

Involvement in disease

Intellectual developmental disorder, autosomal recessive 13 (MRT13):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals.