PEX10 wt Allele

Preferred Label : PEX10 wt Allele;

NCIt synonyms : RNF69; Peroxisomal Biogenesis Factor 10 wt Allele; Peroxisome Biogenesis Factor 10 Gene; PBD6A; PBD6B; Peroxin 10 Gene; NALD;

NCIt definition : Human PEX10 wild-type allele is located in the vicinity of 1p36.32 and is approximately 10 kb in length. This allele, which encodes peroxisome biogenesis factor 10 protein, plays a role in the transport and degradation of peroxisomal targeting signal 1 receptor (PEX5). Mutations in the gene are associated with peroxisome biogenesis disorder types 6A and 6B.;

NCI Metathesaurus CUI : CL1926740;

GenBank Accession Number : AF060502;

Détails

Origin ID

C204214;

UMLS CUI

C5890951;

OMIM relation
- Peroxisome biogenesis factor 10 [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]
- Polyubiquitination [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]
- Unfolded Protein Response [NCIt concept]

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