UQCRH wt Allele

Preferred Label : UQCRH wt Allele;

NCIt synonyms : QCR6; Ubiquinol-Cytochrome C Reductase, Complex III Subunit VIII Gene; MGC111572; Ubiquinol-Cytochrome C Reductase Hinge Protein wt Allele; UQCR8;

NCIt definition : Human UQCRH wild-type allele is located in the vicinity of 1p34.1 and is approximately 13 kb in length. This allele, which encodes cytochrome b-c1 complex subunit 6, mitochondrial protein, is involved in aerobic respiration. A complex rearrangement involving a paracentric inversion of chromosome 22q12 followed by translocation t(1;22)(p34;q12) results in the fusion of this gene to both the EWSR1 gene and the PATZ1 gene. These fusions are associated with small round cell sarcoma.;

GenBank Accession Number : BC001934;

Details

Origin ID

C98091;

UMLS CUI

C3273812;

OMIM relation
- Ubiquinol-cytochrome C reductase hinge protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p34.1 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [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]
gene_plays_role_in_process
- Cell Respiration [NCIt concept]

Keyword's position in hierarchy(ies) :

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