UQCRC1 wt Allele

Preferred Label : UQCRC1 wt Allele;

NCIt synonyms : QCR1; D3S3191; Cytochrome bc1 Gene; PKNPY; Ubiquinol-Cytochrome C Reductase Core Protein 1 wt Allele; Ubiquinol-Cytochrome C Reductase Core Protein I Gene; UQCR1;

NCIt definition : Human UQCRC1 wild-type allele is located in the vicinity of 3p21.31 and is approximately 12 kb in length. This allele, which encodes cytochrome b-c1 complex subunit 1, mitochondrial protein, plays a role in oxidative phosphorylation and mitochondrial-processing peptidase activity. Mutations in the gene are associated with parkinsonism with polyneuropathy.;

GenBank Accession Number : BC009586;

Détails

Origin ID

C213514;

OMIM relation
- Ubiquinol-cytochrome C reductase core protein I [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p21.31 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Oxidative Phosphorylation Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
- Prion Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Respiration [NCIt concept]
- Hydrolysis [NCIt concept]
- Metal Ion Binding [NCIt concept]
- Proteolysis [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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