PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Gene ID: 5351, updated on 5-Mar-2024Gene type: protein coding
Also known as: LH; LH1; LLH; EDS6; PLOD; EDSKCL1
- See all available tests in GTR for this gene
- Go to complete Gene record for PLOD1
- Go to Variation Viewer for PLOD1 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Ehlers-Danlos syndrome, kyphoscoliotic type 1 | See labs |
Genomic context
- Location:
- 1p36.22
- Sequence:
- Chromosome: 1; NC_000001.11 (11934717..11975537)
- Total number of exons:
- 20
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for PLOD1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PLOD1 @ LOVD
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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