Entity Details

Primary name TRAPPC6B
Entity type gene
Source Source Link

Details

PrimaryID122553
RefseqGene
SymbolTRAPPC6B
Nametrafficking protein particle complex subunit 6B
Chromosome14
Location14q21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTPC6B_HUMAN

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005801 cis-Golgi network
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007399 nervous system development
GO:0030008 TRAPP complex
GO:0043087 regulation of GTPase activity
GO:0048208 COPII vesicle coating

Diseases

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Disease IDSourceNameDescription
617862 OMIMNeurodevelopmental 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. The disease is caused by variants affecting the gene represented in this entry.