PEX7 wt Allele

Preferred Label : PEX7 wt Allele;

NCIt synonyms : PTS2R; RD; Peroxin 7 Gene; RCDP1; Peroxisome Biogenesis Factor 7 Gene; PBD9B; Peroxisomal Biogenesis Factor 7 wt Allele; Peroxisomal PTS2 Receptor Gene; Peroxisome Targeting Signal 2 Receptor Gene;

NCIt definition : Human PEX7 wild-type allele is located in the vicinity of 6q23.3 and is approximately 91 kb in length. This allele, which encodes peroxisomal targeting signal 2 receptor protein, is involved in the mediation of protein transport into the peroxisome. Mutation of the gene is associated with rhizomelic chondrodysplasia punctata type 1 and peroxisomal biogenesis disorder 9B.;

NCI Metathesaurus CUI : CL1926566;

GenBank Accession Number : AF180814;

Details

Origin ID

C204459;

UMLS CUI

C5890954;

OMIM relation
- Peroxisome biogenesis factor 7 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [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]

Keyword's position in hierarchy(ies) :

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