PEX2 wt Allele

Preferred Label : PEX2 wt Allele;

NCIt synonyms : Peroxisomal Membrane Protein 3, 35kDa Gene; PMP35; Peroxin 2 Gene; Peroxisomal Biogenesis Factor 2 wt Allele; PAF1; ZWS3; Peroxisome Biogenesis Factor 2 Gene; PBD5A; PBD5B; Zellweger Syndrome Gene; PMP3; Peroxisomal Membrane Protein, 35-kD Gene; RNF72; PXMP3; Peroxisomal Membrane Protein 3 (35kD, Zellweger Syndrome) Gene;

NCIt definition : Human PEX2 wild-type allele is located in the vicinity of 8q21.13 and is approximately 21 kb in length. This allele, which encodes peroxisome biogenesis factor 2 protein, is involved in the transport of peroxisomal targeting signal 1 receptor (PEX5) to the cytoplasm. Mutations in the gene are associated with peroxisomal biogenesis disorder types 5A and 5B.;

NCI Metathesaurus CUI : CL1926900;

GenBank Accession Number : M86852;

Details

Origin ID

C204444;

UMLS CUI

C5890889;

OMIM relation
- Peroxisome biogenesis factor 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8q21.13 [NCIt concept]
gene_is_element_in_pathway
- Peroxisome Biogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Cellular Stress Response [NCIt concept]
- Fatty Acid Metabolism [NCIt concept]
- Inhibition of Cell Proliferation [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Monoubiquitination [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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