PLOD1 wt Allele

**Semantic type:** Gene or Genome

**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).

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