AP4M1 wt Allele

Preferred Label : AP4M1 wt Allele;

NCIt synonyms : MU-4; MU-ARP2; Adapter-Related Protein Complex 4, Mu-1 Subunit Gene; Adaptor Related Protein Complex 4 Subunit Mu 1 wt Allele; SPG50; CPSQ3;

NCIt definition : Human AP4M1 wild-type allele is located in the vicinity of 7q22.1 and is approximately 10 kb in length. This allele, which encodes AP-4 complex subunit mu-1 protein, is involved in recognition of cargo during protein trafficking. Mutation of the gene is associated with autosomal recessive spastic paraplegia 50.;

NCI Metathesaurus CUI : CL1905391;

GenBank Accession Number : Y08387;

Details

Origin ID

C191995;

UMLS CUI

C5780786;

OMIM relation
- Adaptor-related protein complex 4, mu-1 subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q22.1 [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]

Keyword's position in hierarchy(ies) :

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