Entrez gene ID | | 8985 |
Official gene symbol | | PLOD3 |
Full name | | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 |
Aliases | | ,LH3, |
Gene 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] |
Location | | Chromosome: 7 Locus: 7q22 |
Gene position | | 100861011 - 100849258 Map Viewer |
Gene orientation | | minus |
Gene size | | 11754 bp |
Gene sequence |
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OMIM ID | | 603066 |