COQ8B wt Allele

Preferred Label : COQ8B wt Allele;

NCIt synonyms : NPHS9; FLJ12229; AarF Domain Containing Kinase 4 Gene; Coenzyme Q8B wt Allele; AarF Domain-Containing Kinase 4 Gene; ADCK4;

NCIt definition : Human COQ8B wild-type allele is located in the vicinity of 19q13.2 and is approximately 34 kb in length. This allele, which encodes atypical kinase COQ8B, mitochondrial protein, is involved in synthesis of coenzyme Q. Mutation of the gene is associated with nephrotic syndrome type 9.;

NCI Metathesaurus CUI : CL1905462;

GenBank Accession Number : AK022291;

Details

Origin ID

C191901;

UMLS CUI

C5780806;

OMIM relation
- Coenzyme q8b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.2 [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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