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 crossli... See more...

Aliases for PLOD1 Gene

Aliases for PLOD1 Gene

  • Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1 2 3 4 5
  • LH1 2 3 4
  • Lysyl Hydroxlase 1 2 3
  • EC 1.14.11.4 4 51
  • PLOD 3 4
  • LLH 3 4
  • Procollagen-Lysine 1, 2-Oxoglutarate 5-Dioxygenase (Lysine Hydroxylase, Ehlers-Danlos Syndrome Type VI) 2
  • Procollagen-Lysine 1, 2-Oxoglutarate 5-Dioxygenase 1 3
  • Lysyl Hydroxylase 1 4
  • Lysine Hydroxylase 3
  • EDSKCL1 3
  • PLOD1 5
  • EDS6 3
  • LH 3

External Ids for PLOD1 Gene

Previous HGNC Symbols for PLOD1 Gene

  • LLH
  • PLOD

Previous GeneCards Identifiers for PLOD1 Gene

  • GC01P011930
  • GC01P011994
  • GC01P011149

Summaries for PLOD1 Gene

Entrez Gene Summary for PLOD1 Gene

  • 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]

GeneCards Summary for PLOD1 Gene

PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1) is a Protein Coding gene. Diseases associated with PLOD1 include Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 and Umbilical Hernia. Among its related pathways are Degradation of the extracellular matrix and Lysine degradation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and iron ion binding. An important paralog of this gene is PLOD2.

UniProtKB/Swiss-Prot Summary for PLOD1 Gene

  • 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLOD1 Gene

Genomics for PLOD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLOD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLOD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLOD1

Top Transcription factor binding sites by QIAGEN in the PLOD1 gene promoter:
  • FOXO1
  • FOXO1a
  • GR-alpha
  • Nkx2-5
  • Sp1
  • STAT5B
  • TBP

Genomic Locations for PLOD1 Gene

Genomic Locations for PLOD1 Gene
chr1:11,934,205-11,975,538
(GRCh38/hg38)
Size:
41,334 bases
Orientation:
Plus strand
chr1:11,994,262-12,035,599
(GRCh37/hg19)
Size:
41,338 bases
Orientation:
Plus strand

Genomic View for PLOD1 Gene

Genes around PLOD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLOD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLOD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLOD1 Gene

Proteins for PLOD1 Gene

  • Protein details for PLOD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02809-PLOD1_HUMAN
    Recommended name:
    Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
    Protein Accession:
    Q02809
    Secondary Accessions:
    • B4DR87
    • Q96AV9
    • Q9H132

    Protein attributes for PLOD1 Gene

    Size:
    727 amino acids
    Molecular mass:
    83550 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Homodimer (By similarity). Identified in a complex with P3H3 and P3H4 (By similarity).

    Alternative splice isoforms for PLOD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLOD1 Gene

Selected DME Specific Peptides for PLOD1 Gene

Q02809:
  • VCDEGLRSLKGIGDEALP
  • HPGRLTHYHEGLPTT
  • DGYYARSEDYVDIVQ
  • AYDTLPV
  • PCPDVYWFP
  • TEKLYPGYYT
  • YYFSVDADV
  • NLLVLTVATK
  • EYQSVKLVGPEVR
  • RVGVWNVPY
  • DWKEKYI
  • FEREWHKFL
  • HGNGPTKLQ
  • PHHDASTF
  • FVVRYKP
  • DYEGGGCRFLRY
  • GTRYIAVSF
  • DGKRFLGSGGFIGYAP
  • LWSNFWG
  • LSKLVAEWEGQD
  • RSAQFFNYKIQ
  • PEKREQINI
  • KVRLLKKALEKHADKE
  • EDLVILF
  • WNVPYIS

Post-translational modifications for PLOD1 Gene

  • Glycosylation at Asn163, Asn197, Asn538, and Asn686
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PLOD1_HUMAN (1633)

Other Protein References for PLOD1 Gene

Antibody Products

  • Boster Bio Antibodies for PLOD1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLOD1

Domains & Families for PLOD1 Gene

Gene Families for PLOD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PLOD1 Gene

InterPro:
Blocks:
  • Procollagen-lysine 5-dioxygenase
  • Prolyl 4-hydroxylase, alpha subunit
ProtoNet:

Suggested Antigen Peptide Sequences for PLOD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79184, highly similar to Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (EC 1.14.11.4) (B4DR87_HUMAN)
  • Lysyl hydroxylase 1 (PLOD1_HUMAN)
genes like me logo Genes that share domains with PLOD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLOD1 Gene

Function for PLOD1 Gene

Molecular function for PLOD1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-lysyl-[procollagen] + O2 = (5R)-5-hydroxy-L-lysyl-[procollagen] + CO2 + succinate; Xref=Rhea:RHEA:16569, Rhea:RHEA-COMP:12751, Rhea:RHEA-COMP:12752, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:133442; EC=1.14.11.4; Evidence={ECO:0000269|PubMed:10686424, ECO:0000269|PubMed:15854030, ECO:0000269|PubMed:8621606};.

Enzyme Numbers (IUBMB) for PLOD1 Gene

Phenotypes From GWAS Catalog for PLOD1 Gene

Gene Ontology (GO) - Molecular Function for PLOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 26496610
GO:0008475 procollagen-lysine 5-dioxygenase activity IBA,ISS 9582318
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with PLOD1: view
genes like me logo Genes that share phenotypes with PLOD1: view

Human Phenotype Ontology for PLOD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLOD1 Gene

MGI Knock Outs for PLOD1:
  • Plod1 Plod1<tm1Soin>
  • Plod1 Plod1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLOD1

No data available for Transcription Factor Targets and HOMER Transcription for PLOD1 Gene

Localization for PLOD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLOD1 Gene

Rough endoplasmic reticulum membrane. Peripheral membrane protein. Lumenal side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLOD1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
nucleus 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0030867 rough endoplasmic reticulum membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PLOD1: view

Pathways & Interactions for PLOD1 Gene

genes like me logo Genes that share pathways with PLOD1: view

Pathways by source for PLOD1 Gene

Gene Ontology (GO) - Biological Process for PLOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEP 15174142
GO:0006493 NOT protein O-linked glycosylation IDA 10934207
GO:0008544 epidermis development IMP 8449506
GO:0017185 peptidyl-lysine hydroxylation IBA,ISS 9582318
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PLOD1: view

No data available for SIGNOR curated interactions for PLOD1 Gene

Drugs & Compounds for PLOD1 Gene

(18) Drugs for PLOD1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target, cofactor 748,748
Iron Approved, Experimental Pharma 1560
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(11) Additional Compounds for PLOD1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Hydroxylysine
  • (2S,5R)-5-Hydroxylysine
  • (5R)-5-Hydroxy-L-lysine
  • alpha,epsilon-diamino-delta-Hydroxycaproic acid
  • L-erythro-5-Hydroxylysine
  • L-Normal-5-hydroxylysine
1190-94-9
genes like me logo Genes that share compounds with PLOD1: view

Transcripts for PLOD1 Gene

mRNA/cDNA for PLOD1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLOD1

Alternative Splicing Database (ASD) splice patterns (SP) for PLOD1 Gene

No ASD Table

Relevant External Links for PLOD1 Gene

GeneLoc Exon Structure for
PLOD1

Expression for PLOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLOD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLOD1 Gene

This gene is overexpressed in Bone marrow stromal cell (13.3) and Fetal ovary (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLOD1 Gene



Protein tissue co-expression partners for PLOD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLOD1

SOURCE GeneReport for Unigene cluster for PLOD1 Gene:

Hs.75093

Evidence on tissue expression from TISSUES for PLOD1 Gene

  • Skin(4.9)
  • Nervous system(4.8)
  • Liver(4.5)
  • Kidney(4.2)
  • Lung(4.2)
  • Muscle(3)
  • Intestine(2.9)
  • Heart(2.5)
  • Eye(2.4)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLOD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PLOD1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PLOD1 Gene

Orthologs for PLOD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLOD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLOD1 30 31
  • 99.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLOD1 30 31
  • 90.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLOD1 30 31
  • 90.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plod1 30
  • 86.46 (n)
Mouse
(Mus musculus)
Mammalia Plod1 30 17 31
  • 86.32 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLOD1 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
Chicken
(Gallus gallus)
Aves PLOD1 30 31
  • 72.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLOD1 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plod1 30
  • 66.52 (n)
Zebrafish
(Danio rerio)
Actinopterygii plod1a 30 31
  • 66.71 (n)
OneToOne
wufc29c10 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8691 30
Fruit Fly
(Drosophila melanogaster)
Insecta Plod 31
  • 44 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea let-268 31
  • 43 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10744 31
  • 49 (a)
OneToMany
Species where no ortholog for PLOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PLOD1 Gene

ENSEMBL:
Gene Tree for PLOD1 (if available)
TreeFam:
Gene Tree for PLOD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLOD1: view image

Paralogs for PLOD1 Gene

Paralogs for PLOD1 Gene

(3) SIMAP similar genes for PLOD1 Gene using alignment to 5 proteins:

  • PLOD1_HUMAN
  • B4DR87_HUMAN
  • Q5JXB7_HUMAN
  • Q5JXB8_HUMAN
  • Q5JXB9_HUMAN
genes like me logo Genes that share paralogs with PLOD1: view

Variants for PLOD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLOD1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
640601 Uncertain Significance: Ehlers-Danlos syndrome, hydroxylysine-deficient 11,964,649(+) T/G MISSENSE_VARIANT
644206 Uncertain Significance: Ehlers-Danlos syndrome, hydroxylysine-deficient 11,958,546(+) G/A MISSENSE_VARIANT
644297 Uncertain Significance: Ehlers-Danlos syndrome, hydroxylysine-deficient 11,974,692(+) C/T NONSENSE
644789 Uncertain Significance: Ehlers-Danlos syndrome, hydroxylysine-deficient 11,952,664(+) G/A MISSENSE_VARIANT
645631 Uncertain Significance: Ehlers-Danlos syndrome, hydroxylysine-deficient 11,964,664(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PLOD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLOD1 Gene

Variant ID Type Subtype PubMed ID
dgv110n54 CNV loss 21841781
dgv111n54 CNV loss 21841781
esv2674148 CNV deletion 23128226
esv2743774 CNV deletion 23290073
esv27905 CNV gain 19812545
nsv1075165 CNV deletion 25765185
nsv1126178 CNV deletion 24896259
nsv545427 CNV loss 21841781
nsv545430 CNV gain 21841781
nsv545433 CNV gain 21841781
nsv545434 CNV gain+loss 21841781
nsv545435 CNV gain 21841781
nsv955252 CNV deletion 24416366

Variation tolerance for PLOD1 Gene

Residual Variation Intolerance Score: 82.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.30; 92.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLOD1 Gene

Human Gene Mutation Database (HGMD)
PLOD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLOD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLOD1 Gene

Disorders for PLOD1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for PLOD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PLOD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLOD1_HUMAN
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe. {ECO:0000269 PubMed:10686424, ECO:0000269 PubMed:15666309, ECO:0000269 PubMed:15854030, ECO:0000269 PubMed:15979919, ECO:0000269 PubMed:8163671, ECO:0000269 PubMed:9617436}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLOD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PLOD1: view

No data available for Genatlas for PLOD1 Gene

Publications for PLOD1 Gene

  1. Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3----p36.2. (PMID: 1577494) Hautala T … Myllylä R (Genomics 1992) 2 3 4 23
  2. Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese. (PMID: 19442614) Huang QY … Kung AW (Bone 2009) 3 23 41
  3. Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK. (PMID: 16758144) Tasker PN … Albagha OM (Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2006) 3 23 41
  4. 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: 15979919) Giunta C … Steinmann B (Molecular genetics and metabolism 2005) 3 4 23
  5. A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. (PMID: 15854030) Walker LC … Yeowell HN (The Journal of investigative dermatology 2005) 3 4 23

Products for PLOD1 Gene

  • Signalway ELISA kits for PLOD1

Sources for PLOD1 Gene