AP4B1 wt Allele

Preferred Label : AP4B1 wt Allele;

NCIt synonyms : SPG47; BETA-4; Adaptor-Related Protein Complex 4, Beta-1 Subunit Gene; Adaptor Related Protein Complex 4 Subunit Beta 1 wt Allele; Spastic Paraplegia 47 Gene; CPSQ5;

NCIt definition : Human AP4B1 wild-type allele is located in the vicinity of 1p13.2 and is approximately 11 kb in length. This allele, which encodes AP-4 complex subunit beta-1 protein, plays a role in vesicle-mediated protein trafficking. Mutation of the gene is associated with autosomal recessive spastic paraplegia 47.;

NCI Metathesaurus CUI : CL1905436;

GenBank Accession Number : AF092094;

Details

Origin ID

C191968;

UMLS CUI

C5781212;

OMIM relation
- Adaptor-related protein complex 4, beta-1 subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p13.2 [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]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients