Gene Symbol | PLOD3 |
Entrez Gene ID | 8985 |
Full Name | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 |
Synonyms | LH3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough 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 VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Lysyl hydroxylase 3 deficiency, 612394 (3) |