PEX12 wt Allele

Preferred Label : PEX12 wt Allele;

NCIt synonyms : Peroxisomal Biogenesis Factor 12 wt Allele; Peroxisome Biogenesis Factor 12 Gene; PAF-3; PAF3; Peroxin 12 Gene; PBD3A;

NCIt definition : Human PEX12 wild-type allele is located in the vicinity of 17q12 and is approximately 4 kb in length. This allele, which encodes peroxisome assembly protein 12, is involved in recycling of peroxisomal targeting signal 1 receptor (PEX5). Mutation of the gene is associated with the peroxisomal biogenesis disorder types 3A and 3B.;

NCI Metathesaurus CUI : CL1926739;

GenBank Accession Number : U91521;

Details

Origin ID

C204217;

UMLS CUI

C5890888;

OMIM relation
- Peroxisome biogenesis factor 12 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q12 [NCIt concept]
gene_is_element_in_pathway
- Peroxisome Biogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Cellular Stress Response [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]
- Ubiquitination [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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