NPC1 wt Allele

Preferred Label : NPC1 wt Allele;

NCIt synonyms : POGZ; SLC65A1; NPC Intracellular Cholesterol Transporter 1 wt Allele; Niemann-Pick Disease, Type C1 Gene; NPC;

NCIt definition : Human NPC1 wild-type allele is located in the vicinity of 18q11.2 and is approximately 80 kb in length. This allele, which encodes NPC intracellular cholesterol transporter 1 protein, is involved in intracellular cholesterol transport. Mutations in the gene are associated with Niemann-Pick disease types C1 and D.;

NCI Metathesaurus CUI : CL1926278;

GenBank Accession Number : AF002020;

Details

Origin ID

C203990;

UMLS CUI

C5890901;

OMIM relation
- Npc intracellular cholesterol transporter 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 18q11.2 [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Cholesterol Homeostasis [NCIt concept]
- Endocytotic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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