" /> PLOD1 wt Allele - CISMeF





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;

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03/05/2025


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