PEX5 wt Allele

Preferred Label : PEX5 wt Allele;

NCIt synonyms : Peroxisomal Import Receptor 5 Gene; PTS1R; Peroxin 5 Gene; RCDP5; PTS1-BP; Peroxisome Biogenesis Factor 5 Gene; Peroxisomal Biogenesis Factor 5 wt Allele; Peroxisomal Targeting Signal Import Receptor Gene; PBD2A; PBD2B; Peroxisomal Targeting Signal 1 (SKL Type) Receptor Gene; Peroxisomal Targeting Signal Receptor 1 Gene; PXR1;

NCIt definition : Human PEX5 wild-type allele is located in the vicinity of 12p13.31 and is approximately 30 kb in length. This allele, which encodes peroxisomal targeting signal 1 receptor protein, is involved in peroxisomal protein import. Mutation of the gene is associated with type 5 rhizomelic chondrodysplasia punctata and peroxisome biogenesis disorder types 2A and 2B.;

NCI Metathesaurus CUI : CL1926568;

GenBank Accession Number : U19721;

Détails

Origin ID

C204453;

UMLS CUI

C5890950;

OMIM relation
- Peroxisome biogenesis factor 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p13.31 [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]
- Receptor Signaling [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

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