PEX6 wt Allele

Preferred Label : PEX6 wt Allele;

NCIt synonyms : Peroxin 6 Gene; PXAAA1; Peroxisome Biogenesis Factor 6 Gene; PAF-2; Peroxisomal AAA-Type ATPase 1 Gene; PDB4B; PAF2; Peroxisomal Biogenesis Factor 6 wt Allele; PBD4A; HMLR2;

NCIt definition : Human PEX6 wild-type allele is located in the vicinity of 6p21.1 and is approximately 15 kb in length. This allele, which encodes peroxisomal ATPase PEX6 protein, plays a role in the regulation of peroxisome biogenesis. Mutations in the gene are associated with Heimler syndrome 2 and peroxisome biogenesis disorder types 4A and 4B.;

NCI Metathesaurus CUI : CL1926567;

GenBank Accession Number : U56602;

Details

Origin ID

C204456;

UMLS CUI

C5890887;

OMIM relation
- Peroxisome biogenesis factor 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21.1 [NCIt concept]
gene_is_element_in_pathway
- Peroxisome Biogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Cellular Stress Response [NCIt concept]
- Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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