PLOD2 wt Allele

Preferred Label : PLOD2 wt Allele;

NCIt synonyms : Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase (Lysine Hydroxylase) 2 Gene; TLH; LH2; BRKS2; Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2 wt Allele; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase 2 Gene;

NCIt definition : Human PLOD2 wild-type allele is located in the vicinity of 3q24 and is approximately 94 kb in length. This allele, which encodes procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 protein, plays a role in post-translational protein modification and collagen fibril stabilization. Mutation of the gene is associated with Bruck syndrome type 2.;

NCI Metathesaurus CUI : CL970949;

GenBank Accession Number : U84573;

Details

Origin ID

C162520;

UMLS CUI

C5202728;

Automatic exact mappings (from CISMeF team)
- Bruck syndrome 2 [OMIM Phenotype]
- Lim homeobox gene 2 [OMIM gene]
- Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 [OMIM gene]
- procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 [ORDO Gene]
OMIM relation
- Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 [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
- 3q24 [NCIt concept]
gene_is_element_in_pathway
- Lysine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Post-Translational Modification [NCIt concept]

Keyword's position in hierarchy(ies) :

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