LDHB wt Allele

Preferred Label : LDHB wt Allele;

NCIt synonyms : Lactate Dehydrogenase H Chain Gene; TRG-5; LDHBD; LDH, Heart Gene; HEL-S-281; Lactate Dehydrogenase B wt Allele; LDH-B; LDH-H;

NCIt definition : Human LDHB wild-type allele is located in the vicinity of 12p12.1 and is approximately 123 kb in length. This allele, which encodes L-lactate dehydrogenase B chain, plays a role in the metabolism of L-lactate and pyruvate in the mitochondrion. Mutation of the gene is associated with lactate dehydrogenase B deficiency.;

NCI Metathesaurus CUI : CL1922093;

GenBank Accession Number : NM_002300;

Détails

Origin ID

C202916;

UMLS CUI

C5891003;

OMIM relation
- Lactate dehydrogenase b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p12.1 [NCIt concept]
gene_is_element_in_pathway
- Cysteine and Methionine Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- Hypoxia-Inducible Factor Pathway [NCIt concept]
- Propanoate Metabolism Pathway [NCIt concept]
- Pyruvate Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

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

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