full name
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

synonyms
EDS6, LH, LH1, LLH, PLOD, PLOD1, ENSG00000083444

HGNC
HGNC:9081

Entrez Gene
Gene:5351

ENSEMBL
ENSG00000083444

location
chr: 1
start: 11994724
stop: 12035599
strand: +

OMIM
OMIM:153454: PLOD1 (Autosomal recessive inheritance)
OMIM:225400: Ehlers-Danlos syndrome, kyphoscoliotic type, 1

transcripts
NM_000302.3

pathways
Collagen biosynthesis and modifying enzymes [NCBI:1270246] [REACTOME:R-HSA-1650814] [PUBMED:14698617] [PUBMED:17550969]
Collagen formation [NCBI:1270245] [REACTOME:R-HSA-1474290] [PUBMED:7574488] [PUBMED:19693541]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Lysine degradation [NCBI:82956] [KEGG:hsa00310] [PUBMED:11802770] [PUBMED:1682209]