| ncRNA Symbol: | PLOD1 |
| Full Name: | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
| Category: | mRNA |
| Synonyms: | EDS6|EDSKCL1|LH|LH1|LLH|PLOD |
| Chromosome: | chr1 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 11934205 | End Site(bp): | 11975538 | |
| 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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