TRAPPC4 wt Allele

Preferred Label : TRAPPC4 wt Allele;

NCIt synonyms : CGI-104; HSPC172; Trafficking Protein Particle Complex, Subunit 4 Gene; TRS23; Trafficking Protein Particle Complex Subunit 4 wt Allele; PTD009; SBDN; NEDESBA; Trafficking Protein Particle Complex 4 Gene; TRS23 Homolog Gene; SYNBINDIN;

NCIt definition : Human TRAPPC4 wild-type allele is located 11q23.3 and is approximately 7 kb in length. This allele, which encodes trafficking protein particle complex subunit 4 protein, is involved in the regulation of Rab1 GTPase activity, autophagy and endoplasmic reticulum to Golgi transport. Mutations in the gene are associated with neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.;

GenBank Accession Number : AF078862;

Details

Origin ID

C215062;

OMIM relation
- Trafficking protein particle complex, subunit 4 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q23.3 [NCIt concept]
gene_is_element_in_pathway
- Syndecan-2-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Signal Transduction [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients