• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PLOD1 (HGNC:9081) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LLH, PLOD
Alias symbols
LH1
%HI
29.26(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.94(Read more about gnomAD LOEUF score)
Cytoband
1p36.22
Genomic Coordinates
GRCh37/hg19: chr1:11994774-12035594 NCBI Ensembl UCSC
GRCh38/hg38: chr1:11934717-11975537 NCBI Ensembl UCSC
MANE Select Transcript
NM_000302.4 ENST00000196061.5 (Read more about MANE Select)
Function
Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys- Gly- sequences in collagens (PubMed:8621606, PubMed:10686424, PubMed:15854030). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable)... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6099
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Ehlers-Danlos syndrome, kyphoscoliotic type 1 Monarch
HI Evidence Comments:
Variants in PLOD1 have been associated with Ehlers-Danlos syndrome type VI, an autosomal recessive condition. Loss-of-function variants (in a homozygous or compound heterozygous state) appear to be commonly reported; see OMIM 153454 for additional information.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)