rs373165011
This variant is located in the PLOD1 gene.
▶ClinVar annotation
Ehlers-Danlos syndrome, kyphoscoliotic type 1; Familial thoracic aortic aneurysm and aortic dissection; not provided; not specified
View on ClinVar →About PLOD1
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]
View all PLOD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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