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Aliases for PLOD1 Gene

Aliases for PLOD1 Gene

  • Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1 2 3 3 5
  • Lysyl Hydroxlase 1 2 3
  • PLOD 3 4
  • LLH 3 4
  • LH1 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
  • EC 1.14.11.4 4
  • EDSKCL1 3
  • 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 Collagen chain trimerization and Degradation of the extracellular matrix. 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 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).

Additional gene information for PLOD1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLOD1 Gene

Genomics for PLOD1 Gene

GeneHancer (GH) Regulatory Elements for PLOD1 Gene

Promoters and enhancers for PLOD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J011933 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.3 330 2.1 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF766 ZNF143 PLOD1 ENSG00000226849 TARDBP MFN2 UBIAD1 MIIP MTHFR
GH01J011935 Enhancer 0.4 dbSUPER 656.5 +1.9 1913 0.8 ZBTB33 BCL11B PLOD1 NPPA-AS1 MFN2
GH01J011978 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.6 +48.5 48527 8.6 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MFN2 EXOSC10 ENSG00000226849 TARDBP MIIP TNFRSF1B PLOD1 CLCN6 KIAA2013 RNU5E-1
GH01J011879 Enhancer 1.8 VISTA FANTOM5 Ensembl ENCODE dbSUPER 18.4 -52.2 -52195 4.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A POLR2B ZNF766 SP5 REST PLOD1 KIAA2013 NPPB RNU5E-1 RNU5E-4P NPPA-AS1 LOC102724659 C1orf167 LOC390997 ENSG00000226849
GH01J011885 Enhancer 1 VISTA dbSUPER 23.6 -46.8 -46753 4 SMARCA5 BCOR ZNF768 PTBP1 HLF ZMYM3 NFXL1 POLR2A HDAC2 SCRT2 PLOD1 MFN2 MIIP NPPB KIAA2013 NPPA-AS1 LOC390997 RNU5E-1
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PLOD1 Gene

Genomic Locations for PLOD1 Gene
chr1:11,934,205-11,975,542
(GRCh38/hg38)
Size:
41,338 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

Post-translational modifications for PLOD1 Gene

  • Glycosylation at isoforms=2686, isoforms=2538, Asn197, and isoforms=2163
  • Modification sites at PhosphoSitePlus

Other Protein References for PLOD1 Gene

No data available for DME Specific Peptides for PLOD1 Gene

Domains & Families for PLOD1 Gene

Gene Families for PLOD1 Gene

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

Suggested Antigen Peptide Sequences for PLOD1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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:
L-lysine-[procollagen] + 2-oxoglutarate + O(2) = (2S,5R)-5-hydroxy-L-lysine-[procollagen] + succinate + CO(2).

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:0008475 procollagen-lysine 5-dioxygenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0031418 L-ascorbic acid binding 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

Clone Products

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 2
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

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 IEA --
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:0006464 cellular protein modification process NAS 1577494
GO:0006493 NOT protein O-linked glycosylation IDA 10934207
GO:0008544 epidermis development TAS 1577494
GO:0017185 peptidyl-lysine hydroxylation ISS 9582318
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

(16) 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, activator 581,581
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

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

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
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
genes like me logo Genes that share compounds with PLOD1: view

Transcripts for PLOD1 Gene

mRNA/cDNA for PLOD1 Gene

Unigene Clusters for PLOD1 Gene

Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for PLOD1 Gene

GeneLoc Exon Structure for
PLOD1
ECgene alternative splicing isoforms for
PLOD1

Expression for PLOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PLOD1 Gene:

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(4.7)
  • Liver(4.4)
  • Kidney(4.1)
  • Lung(4.1)
  • Muscle(2.4)
  • Intestine(2.2)

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 34 33
  • 99.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLOD1 34 33
  • 90.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLOD1 34 33
  • 90.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plod1 33
  • 86.46 (n)
mouse
(Mus musculus)
Mammalia Plod1 16 34 33
  • 86.32 (n)
oppossum
(Monodelphis domestica)
Mammalia PLOD1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves PLOD1 34 33
  • 72.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLOD1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plod1 33
  • 66.52 (n)
zebrafish
(Danio rerio)
Actinopterygii plod1a 34 33
  • 66.71 (n)
OneToOne
wufc29c10 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8691 33
fruit fly
(Drosophila melanogaster)
Insecta Plod 34
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-268 34
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10744 34
  • 49 (a)
OneToMany
Species where no ortholog for PLOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for PLOD1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1018107910 uncertain-significance, Ehlers-Danlos syndrome, hydroxylysine-deficient 11,975,116(+) C/A/G 3_prime_UTR_variant
rs1025133534 likely-benign, Ehlers-Danlos syndrome, hydroxylysine-deficient 11,965,539(+) C/T coding_sequence_variant, synonymous_variant
rs1057518879 pathogenic, Depressed nasal bridge, Generalized hypotonia, High palate, Joint hypermobility, Omphalocele, Thoracolumbar scoliosis 11,965,571(+) G/A coding_sequence_variant, stop_gained
rs1085307517 uncertain-significance, not specified, Ehlers-Danlos syndrome, hydroxylysine-deficient 11,972,929(+) A/T coding_sequence_variant, missense_variant
rs112250644 likely-benign, Ehlers-Danlos syndrome, hydroxylysine-deficient 11,965,591(+) G/A coding_sequence_variant, missense_variant

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

(18) MalaCards diseases for PLOD1 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, kyphoscoliotic type, 1
  • edskscl1
umbilical hernia
  • hernia, umbilical
omphalocele
  • omphalocoele
omphalocele, autosomal
  • chromosome 1p31 duplication syndrome
brittle cornea syndrome 2
  • bcs2
- 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 6 (EDS6) [MIM:225400]: A connective tissue disorder characterized by generalized joint hypermobility, hyperextensible skin, atrophic cutaneous scars due to tissue fragility, progressive kyphoscoliosis already present at birth, ocular manifestations, arterial rupture, easy bruising, severe neonatal muscle hypotonia and delayed motor development. {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
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 22 58
  2. Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese. (PMID: 19442614) Huang QY … Kung AW (Bone 2009) 3 22 44 58
  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 22 44 58
  4. 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 22 58
  5. 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 22 58

Products for PLOD1 Gene

Sources for PLOD1 Gene

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