Gene Symbol | PLOD1 |
Entrez Gene ID | 5351 |
Full Name | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
Synonyms | EDS6,EDSKCL1,LH,LH1,LLH,PLOD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. |
Disorder MIM: | |
Disorder Html: | Ehlers-Danlos syndrome, type VI, 225400 (3) |