Gene: PLOD1

Alternate names for this Gene: EDS6|EDSKCL1|LH|LH1|LLH|PLOD

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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22

Description of this Gene: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

Type of Gene: protein-coding

rs72641011 in PLOD1 gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs72641011 in PLOD1 gene and Diastolic blood pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs121913551 in PLOD1 gene and Ehlers-Danlos syndrome type 6 PMID 15979919 2006 Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

PMID 15854030 2005 A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

PMID 8163671 1994 A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

PMID 10686424 2000 Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.

PMID 15666309 2005 Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

PMID 9617436 1998 Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C).

PMID 9220536 1997 Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.

PMID 10329027 1999 A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.

PMID 9617436 1998 Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C).

PMID 10874315 2000 Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.

rs1208984 in PLOD1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2273291 in PLOD1 gene and Moyamoya Disease PMID 29273593 2018 Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.

rs2273291 in PLOD1 gene and Moyamoya disease 1 PMID 29273593 2018 Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.

rs11121845 in PLOD1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.