PLOD1 wt Allele

Preferred Label : PLOD1 wt Allele;

NCIt synonyms : Lysyl Hydroxlase 1 Gene; PLOD; EDSKCL1; LH1; Procollagen-Lysine 1, 2-Oxoglutarate 5-Dioxygenase 1 Gene; LH; Procollagen-Lysine 1, 2-Oxoglutarate 5-Dioxygenase (Lysine Hydroxylase, Ehlers-Danlos Syndrome Type VI) Gene; EDS6; Lysine Hydroxylase Gene; Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1 wt Allele; LLH; Procollagen Lysyl Hydroxylase 1 Gene;

NCIt definition : Human PLOD1 wild-type allele is located in the vicinity of 1p36.22 and is approximately 41 kb in length. This allele, which encodes procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 protein, is involved in lysine hydroxylation and crosslinking of collagen fibrils. Mutations in the gene are associated with kyphoscoliotic Ehlers-Danlos syndrome type 1 (type IV Ehlers-Danlos syndrome).;

NCI Metathesaurus CUI : CL1926604;

GenBank Accession Number : BC016657;

Details

Origin ID

C204519;

UMLS CUI

C5890912;

OMIM relation
- Procollagen-lysine, 2-oxoglutarate 5-dioxygenase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Lysine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Histogenic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Post-Translational Modification [NCIt concept]

Keyword's position in hierarchy(ies) :

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