PLOD1 Back

procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1

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NCBI Description of 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.

Community Annotation of PLOD1 Add / Edit PLOD1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PLOD1 is highly significantly mutated in
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PLOD1 is significantly mutated in
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PLOD1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for PLOD1