Entrez gene ID | | 5351 |
Official gene symbol | | PLOD1 |
Full name | | procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 |
Aliases | | ,FLJ42041,LH,LH1,LLH,PLOD, |
Gene summary | | Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p36.22 |
Gene position | | 11994746 - 12035594 Map Viewer |
Gene orientation | | plus |
Gene size | | 40849 bp |
Gene sequence |
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OMIM ID | | 153454 |