PEX1 wt Allele

Preferred Label : PEX1 wt Allele;

NCIt synonyms : Zellweger Syndrome 1 Gene; ZWS; Peroxin 1 Gene; Peroxisomal Biogenesis Factor 1 wt Allele; ZWS1; Peroxisome Biogenesis Factor 1 Gene; Zellweger Syndrome Gene; PBD1A; PBD1B; HMLR1;

NCIt definition : Human PEX1 wild-type allele is located in the vicinity of 7q21.2 and is approximately 42 kb in length. This allele, which encodes peroxisomal ATPase PEX1 protein, is involved in the formation and functionality of the peroxisome. Mutations in the gene are associated with Heimler syndrome 1 and peroxisome biogenesis disorder types 1A and 1B.;

NCI Metathesaurus CUI : CL1926742;

GenBank Accession Number : AF026086;

Détails

Origin ID

C204210;

UMLS CUI

C5890897;

OMIM relation
- Peroxisome biogenesis factor 1 [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
- 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]

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