AP4S1 wt Allele

Preferred Label : AP4S1 wt Allele;

NCIt synonyms : AP47B; AP-4 Adapter Complex Subunit Sigma-1 Gene; CLA20; CLAPS4; Adaptor Related Protein Complex 4 Sigma 1 Subunit Gene; Adaptor-Related Protein Complex 4, Sigma-1 Subunit Gene; SPG52; Clathrin-Associated/Assembly/Adaptor Protein, Sigma Gene; CPSQ6;

NCIt definition : Human AP4S1 wild-type allele is located in the vicinity of 14q12 and is approximately 106 kb in length. This allele, which encodes AP-4 complex subunit sigma-1 protein, plays a role in coated vesicle formation and cargo selection. Mutations in the gene are associated with autosomal recessive spastic paraplegia 52.;

GenBank Accession Number : AB030654;

Détails

Origin ID

C215304;

OMIM relation
- Adaptor-related protein complex 4, sigma-1 subunit [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q12 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

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