The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are kn... See more...

Aliases for PTH1R Gene

Aliases for PTH1R Gene

  • Parathyroid Hormone 1 Receptor 2 3 4 5
  • Parathyroid Hormone/Parathyroid Hormone-Related Peptide Receptor 3 4
  • Parathyroid Hormone Receptor 1 2 3
  • PTH/PTHrP Type I Receptor 3 4
  • PTH/PTHr Receptor 3 4
  • PTH1 Receptor 3 4
  • PTHR1 3 4
  • PTHR 3 4
  • Parathyroid Hormone/Parathyroid Hormone-Related Protein Receptor 3
  • Seven Transmembrane Helix Receptor 3
  • PTH1R 5
  • EKNS 3
  • PFE 3

External Ids for PTH1R Gene

Previous HGNC Symbols for PTH1R Gene

  • PTHR
  • PTHR1

Previous GeneCards Identifiers for PTH1R Gene

  • GC03P046895
  • GC03P046919

Summaries for PTH1R Gene

Entrez Gene Summary for PTH1R Gene

  • The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for PTH1R Gene

PTH1R (Parathyroid Hormone 1 Receptor) is a Protein Coding gene. Diseases associated with PTH1R include Chondrodysplasia, Blomstrand Type and Metaphyseal Chondrodysplasia, Jansen Type. Among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and protein self-association. An important paralog of this gene is PTH2R.

UniProtKB/Swiss-Prot Summary for PTH1R Gene

  • Receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system.

Gene Wiki entry for PTH1R Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTH1R Gene

Genomics for PTH1R Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTH1R 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 PTH1R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTH1R

Top Transcription factor binding sites by QIAGEN in the PTH1R gene promoter:
  • CREB
  • deltaCREB
  • p53
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PTH1R Gene

Genomic Locations for PTH1R Gene
chr3:46,877,689-46,903,799
(GRCh38/hg38)
Size:
26,111 bases
Orientation:
Plus strand
chr3:46,919,236-46,945,289
(GRCh37/hg19)
Size:
26,054 bases
Orientation:
Plus strand

Genomic View for PTH1R Gene

Genes around PTH1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTH1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTH1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTH1R Gene

Proteins for PTH1R Gene

  • Protein details for PTH1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03431-PTH1R_HUMAN
    Recommended name:
    Parathyroid hormone/parathyroid hormone-related peptide receptor
    Protein Accession:
    Q03431
    Secondary Accessions:
    • Q2M1U3

    Protein attributes for PTH1R Gene

    Size:
    593 amino acids
    Molecular mass:
    66361 Da
    Quaternary structure:
    • Interacts (via N-terminal extracellular domain) with PTHLH and PTH (PubMed:8397094, PubMed:10913300, PubMed:18375760, PubMed:19674967). Homodimer in the absence of bound ligand. Peptide hormone binding leads to dissociation of the homodimer (PubMed:19674967, PubMed:20172855).

    Three dimensional structures from OCA and Proteopedia for PTH1R Gene

neXtProt entry for PTH1R Gene

Post-translational modifications for PTH1R Gene

No data available for DME Specific Peptides for PTH1R Gene

Domains & Families for PTH1R Gene

Gene Families for PTH1R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for PTH1R Gene

InterPro:
Blocks:
  • G-protein coupled receptors family 2 (secretin-like)
  • Parathyroid hormone receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for PTH1R Gene

GenScript: Design optimal peptide antigens:
  • Parathyroid hormone 1 receptor (PTH1R_HUMAN)
  • Parathyroid hormone 1 receptor (Q0VGD7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q03431

UniProtKB/Swiss-Prot:

PTH1R_HUMAN :
  • Belongs to the G-protein coupled receptor 2 family.
Family:
  • Belongs to the G-protein coupled receptor 2 family.
genes like me logo Genes that share domains with PTH1R: view

Function for PTH1R Gene

Molecular function for PTH1R Gene

UniProtKB/Swiss-Prot Function:
Receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system.

Phenotypes From GWAS Catalog for PTH1R Gene

Gene Ontology (GO) - Molecular Function for PTH1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004991 parathyroid hormone receptor activity IDA 8397094
GO:0005515 protein binding IPI 19674967
GO:0008528 G protein-coupled peptide receptor activity IBA 21873635
genes like me logo Genes that share ontologies with PTH1R: view
genes like me logo Genes that share phenotypes with PTH1R: view

Human Phenotype Ontology for PTH1R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTH1R Gene

MGI Knock Outs for PTH1R:

Animal Model Products

CRISPR Products

miRNA for PTH1R Gene

miRTarBase miRNAs that target PTH1R

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTH1R

Clone Products

  • Addgene plasmids for PTH1R

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PTH1R Gene

Localization for PTH1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTH1R Gene

Cell membrane. Multi-pass membrane protein.

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 PTH1R gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 2
cytoskeleton 2
endosome 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PTH1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus TAS,IEA --
GO:0005737 cytoplasm TAS,IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IMP 8397094
genes like me logo Genes that share ontologies with PTH1R: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PTH1R Gene

Pathways & Interactions for PTH1R Gene

genes like me logo Genes that share pathways with PTH1R: view

Pathways by source for PTH1R Gene

2 GeneGo (Thomson Reuters) pathways for PTH1R Gene
  • Development_Hedgehog and PTH signaling pathways in bone and cartilage development
  • Transcription_Role of VDR in regulation of genes involved in osteoporosis

SIGNOR curated interactions for PTH1R Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PTH1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9745456
GO:0001503 ossification IEA --
GO:0001701 in utero embryonic development IEA --
GO:0002062 chondrocyte differentiation IEA --
GO:0002076 osteoblast development IEA --
genes like me logo Genes that share ontologies with PTH1R: view

Drugs & Compounds for PTH1R Gene

(57) Drugs for PTH1R Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Parathyroid hormone Approved, Investigational Pharma Target, activator 354
Teriparatide Approved, Investigational Pharma Target, binder 152
Abaloparatide Approved, Investigational Pharma Target, ligand 13
Parathyroid hormone (1-34) (human) Pharma Increases blood calcium level, Parathyroid hormone (PTH) receptor agonist 0
[<sup>125</sup>I][Nle<sup>8,21</sup>,Tyr<sup>34</sup>]PTH-(1-34)-NH<sub>2</sub> (rat) Pharma Agonist, Full agonist 0

(16) Additional Compounds for PTH1R Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PTH-(1-34) (human)
Agonist, Full agonist
DPC AJ1951
943519-33-3

(2) Tocris Compounds for PTH1R Gene

Compound Action Cas Number
DPC AJ1951 Potent parathyroid hormone (PTH) receptor agonist 943519-33-3
Parathyroid hormone (1-34) (human) Parathyroid hormone (PTH) receptor agonist 52232-67-4

(2) ApexBio Compounds for PTH1R Gene

Compound Action Cas Number
Parathyroid hormone (1-34) (human) Increases blood calcium level 52232-67-4
Parathyroid Hormone (1-34), bovine Enhancer of blood calcium level 12583-68-5
genes like me logo Genes that share compounds with PTH1R: view

Transcripts for PTH1R Gene

mRNA/cDNA for PTH1R Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 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 PTH1R

Clone Products

  • Addgene plasmids for PTH1R

Alternative Splicing Database (ASD) splice patterns (SP) for PTH1R Gene

No ASD Table

Relevant External Links for PTH1R Gene

GeneLoc Exon Structure for
PTH1R

Expression for PTH1R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTH1R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTH1R Gene

This gene is overexpressed in Kidney - Cortex (x20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PTH1R Gene



Protein tissue co-expression partners for PTH1R Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTH1R

SOURCE GeneReport for Unigene cluster for PTH1R Gene:

Hs.1019

mRNA Expression by UniProt/SwissProt for PTH1R Gene:

Q03431-PTH1R_HUMAN
Tissue specificity: Expressed in most tissues. Most abundant in kidney, bone and liver.

Evidence on tissue expression from TISSUES for PTH1R Gene

  • Kidney(4.7)
  • Liver(4.4)
  • Nervous system(4.4)
  • Lung(4.3)
  • Bone(2.9)
  • Thyroid gland(2.4)
  • Muscle(2.1)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTH1R Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • placenta
  • rectum
  • ureter
  • 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
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PTH1R: view

No data available for Protein differential expression in normal tissues for PTH1R Gene

Orthologs for PTH1R Gene

This gene was present in the common ancestor of animals.

Orthologs for PTH1R Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PTH1R 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTH1R 30 31
  • 92.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTH1R 30 31
  • 91.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pth1r 30
  • 87.14 (n)
Mouse
(Mus musculus)
Mammalia Pth1r 30 17 31
  • 86.8 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PTH1R 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PTH1R 30 31
  • 71.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTH1R 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100492020 30
  • 69.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii pth1ra 30 31
  • 67.54 (n)
OneToOne
pthr1 30
Fruit Fly
(Drosophila melanogaster)
Insecta Dh44-R1 31
  • 29 (a)
ManyToMany
Dh44-R2 31
  • 27 (a)
ManyToMany
Species where no ortholog for PTH1R 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for PTH1R Gene

ENSEMBL:
Gene Tree for PTH1R (if available)
TreeFam:
Gene Tree for PTH1R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTH1R: view image

Paralogs for PTH1R Gene

(14) SIMAP similar genes for PTH1R Gene using alignment to 5 proteins:

  • PTH1R_HUMAN
  • E7EWE7_HUMAN
  • F2Z314_HUMAN
  • H7C0Q3_HUMAN
  • Q0VGD7_HUMAN
genes like me logo Genes that share paralogs with PTH1R: view

Variants for PTH1R Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTH1R Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
13752 Pathogenic: Failure of tooth eruption, primary 46,901,411(+) C/G INTRON_VARIANT
631484 Uncertain Significance: Eiken skeletal dysplasia 46,897,942(+) A/C MISSENSE_VARIANT
715447 Likely Benign: not provided 46,903,509(+) G/A SYNONYMOUS_VARIANT
733286 Conflicting Interpretations: Metaphyseal chondrodysplasia, Jansen type; Chondrodysplasia Blomstrand type; not provided 46,902,516(+) G/A INTRON_VARIANT
741648 Likely Benign: not provided 46,898,770(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PTH1R Gene

Structural Variations from Database of Genomic Variants (DGV) for PTH1R Gene

Variant ID Type Subtype PubMed ID
dgv8308n54 CNV loss 21841781
esv2759147 CNV loss 17122850
nsv428417 CNV loss 18775914
nsv460526 CNV loss 19166990
nsv508915 CNV insertion 20534489
nsv590207 CNV loss 21841781

Variation tolerance for PTH1R Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTH1R Gene

Human Gene Mutation Database (HGMD)
PTH1R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTH1R

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTH1R Gene

Disorders for PTH1R Gene

MalaCards: The human disease database

(39) MalaCards diseases for PTH1R Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PTH1R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTH1R_HUMAN
  • Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400]: A rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. {ECO:0000269 PubMed:10487664, ECO:0000269 PubMed:15240651, ECO:0000269 PubMed:27160269, ECO:0000269 PubMed:7701349, ECO:0000269 PubMed:8703170, ECO:0000269 PubMed:9178745}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]: Severe skeletal dysplasia. {ECO:0000269 PubMed:9745456}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Enchondromatosis multiple (ENCHOM) [MIM:166000]: A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. {ECO:0000269 PubMed:11850620}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Eiken skeletal dysplasia (EISD) [MIM:600002]: A rare skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation. {ECO:0000269 PubMed:15525660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Primary failure of tooth eruption (PFE) [MIM:125350]: Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption. {ECO:0000269 PubMed:19061984}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PTH1R

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 PTH1R: view

No data available for Genatlas for PTH1R Gene

Publications for PTH1R Gene

  1. Structural basis for parathyroid hormone-related protein binding to the parathyroid hormone receptor and design of conformation-selective peptides. (PMID: 19674967) Pioszak AA … Xu HE (The Journal of biological chemistry 2009) 3 4 23
  2. PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. (PMID: 19061984) Decker E … Weber BH (American journal of human genetics 2008) 3 4 23
  3. Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (PMID: 15523647) Rozeman LB … Bovée JV (Human mutation 2004) 3 4 23
  4. A mutant PTH/PTHrP type I receptor in enchondromatosis. (PMID: 11850620) Hopyan S … Alman BA (Nature genetics 2002) 3 4 23
  5. The N-terminal fragment of human parathyroid hormone receptor 1 constitutes a hormone binding domain and reveals a distinct disulfide pattern. (PMID: 10913300) Grauschopf U … Rudolph R (Biochemistry 2000) 3 4 23

Products for PTH1R Gene

Sources for PTH1R Gene