| Protein Name | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5351 |
| Gene Symbol | PLOD1 |
| UniProt | Q02809 (PLOD1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
56
Total Number of Articles : 61 |
Description |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
| 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] |
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