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Aliases for PTCH1 Gene

Aliases for PTCH1 Gene

  • Patched 1 2 3 5
  • PTCH 3 4
  • PTC1 3 4
  • PTC 3 4
  • Patched Homolog 1 (Drosophila) 2
  • Patched-Like Protein 1 Delta10 3
  • Patched-Like Protein 1 Delta15 3
  • Patched (Drosophila) Homolog 2
  • Patched Homolog (Drosophila) 2
  • Protein Patched Homolog 1 3
  • PTCH Protein -3,4,5 3
  • PTCH Protein +12b 3
  • PTCH Protein -10 3
  • PTCH Protein +4 3
  • PTCH11 3
  • NBCCS 3
  • BCNS 3
  • HPE7 3

External Ids for PTCH1 Gene

Previous HGNC Symbols for PTCH1 Gene

  • NBCCS
  • PTCH

Previous GeneCards Identifiers for PTCH1 Gene

  • GC09M097246
  • GC09M098205
  • GC09M067814

Summaries for PTCH1 Gene

Entrez Gene Summary for PTCH1 Gene

  • This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]

CIViC summary for PTCH1 Gene

GeneCards Summary for PTCH1 Gene

PTCH1 (Patched 1) is a Protein Coding gene. Diseases associated with PTCH1 include Basal Cell Nevus Syndrome and Holoprosencephaly-7. Among its related pathways are Glypican 3 network and G-Beta Gamma Signaling. GO annotations related to this gene include protein complex binding and cholesterol binding. An important paralog of this gene is PTCH2.

UniProtKB/Swiss-Prot for PTCH1 Gene

  • Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehogs proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.

Gene Wiki entry for PTCH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTCH1 Gene

Genomics for PTCH1 Gene

Regulatory Elements for PTCH1 Gene

Enhancers for PTCH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G095493 3.1 VISTA Ensembl ENCODE dbSUPER 16.7 +21.6 21594 3.3 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF263 PTCH1 ENSG00000271155 ENSG00000271314
GH09G095457 1.6 Ensembl ENCODE dbSUPER 16.7 +56.0 55970 6.6 HDGF FOXA2 PKNOX1 CREB3L1 ARNT SIN3A ARID4B FEZF1 YY1 ZNF766 PTCH1 LOC100507346 GC09P095444
GH09G095503 2.3 VISTA FANTOM5 ENCODE dbSUPER 8.8 +6.3 6285 14.3 CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 ENSG00000271155 LINC00476 ENSG00000271659 EIF4BP3 RPS26P37 LOC158435 ENSG00000236095 PTCH1 FANCC ERCC6L2
GH09G095486 1.2 ENCODE dbSUPER 16.2 +30.6 30576 1.2 ATF1 CREB3L1 SIN3A ZNF766 FOS NCOA1 ZNF592 CREB3 SMARCA4 PBX2 PTCH1 ENSG00000271314 LOC100507346
GH09G095449 0.9 ENCODE dbSUPER 15.9 +66.3 66289 3.5 BCOR CTCF BHLHE40 MAFG REST ZIC2 RARA FOXA1 ZNF579 NFE2 PTCH1 GC09P095444 LOC100507346
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTCH1 on UCSC Golden Path with GeneCards custom track

Promoters for PTCH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000238297 457 1201 PKNOX1 FOXA2 AGO1 SIN3A GLIS2 TSHZ1 SREBF1 SMARCA4 GLIS1 NBN

Transcription factor binding sites by QIAGEN in the PTCH1 gene promoter:

Genomic Location for PTCH1 Gene

Chromosome:
9
Start:
95,442,980 bp from pter
End:
95,517,057 bp from pter
Size:
74,078 bases
Orientation:
Minus strand

Genomic View for PTCH1 Gene

Genes around PTCH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTCH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCH1 Gene

Proteins for PTCH1 Gene

  • Protein details for PTCH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13635-PTC1_HUMAN
    Recommended name:
    Protein patched homolog 1
    Protein Accession:
    Q13635
    Secondary Accessions:
    • A3KBI9
    • E9PEJ8
    • Q13463
    • Q5R1U7
    • Q5R1U9
    • Q5R1V0
    • Q5VZC0
    • Q5VZC2
    • Q86XG7

    Protein attributes for PTCH1 Gene

    Size:
    1447 amino acids
    Molecular mass:
    160545 Da
    Quaternary structure:
    • Interacts with SNX17. Interacts with IHH.

    Alternative splice isoforms for PTCH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTCH1 Gene

Post-translational modifications for PTCH1 Gene

  • Glycosylation is necessary for SHH binding.
  • In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation.
  • Ubiquitination at Lys1426
  • Glycosylation at Asn141, isoforms=2, 3, 4312, isoforms=2, 3, 4349, isoforms=2, 3, 4414, Asn875, and Asn1000
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for PTCH1 (Patched 1/PTCH)
  • Cell Signaling Technology (CST) Antibodies for PTCH1 (PTCH1)
  • Cloud-Clone Corp. Antibodies for PTCH1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PTCH1

No data available for DME Specific Peptides for PTCH1 Gene

Domains & Families for PTCH1 Gene

Protein Domains for PTCH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13635

UniProtKB/Swiss-Prot:

PTC1_HUMAN :
  • Belongs to the patched family.
Family:
  • Belongs to the patched family.
genes like me logo Genes that share domains with PTCH1: view

No data available for Gene Families for PTCH1 Gene

Function for PTCH1 Gene

Molecular function for PTCH1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehogs proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.

Gene Ontology (GO) - Molecular Function for PTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005113 patched binding IEA --
GO:0005119 smoothened binding IPI 9811851
GO:0005515 protein binding IPI 19561609
GO:0008158 hedgehog receptor activity IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with PTCH1: view
genes like me logo Genes that share phenotypes with PTCH1: view

Human Phenotype Ontology for PTCH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTCH1 Gene

MGI Knock Outs for PTCH1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PTCH1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PTCH1 Gene

Localization for PTCH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTCH1 Gene

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 PTCH1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 colocalizes_with Golgi apparatus IDA 11278759
GO:0005886 plasma membrane IDA 11278759
GO:0005901 caveola IDA 11278759
GO:0005929 cilium IEA --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with PTCH1: view

Pathways & Interactions for PTCH1 Gene

genes like me logo Genes that share pathways with PTCH1: view

SIGNOR curated interactions for PTCH1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 16229683
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001709 cell fate determination IEA --
GO:0001841 neural tube formation IEA --
genes like me logo Genes that share ontologies with PTCH1: view

Drugs & Compounds for PTCH1 Gene

(4) Drugs for PTCH1 Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
vismodegib Approved Pharma other, Antagonist Other, Hedgehog antagonists 0

(1) Additional Compounds for PTCH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PTCH1: view

Transcripts for PTCH1 Gene

Unigene Clusters for PTCH1 Gene

Patched 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PTCH1

Alternative Splicing Database (ASD) splice patterns (SP) for PTCH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a ·
SP1: - - - - - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: - - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PTCH1 Gene

GeneLoc Exon Structure for
PTCH1
ECgene alternative splicing isoforms for
PTCH1

Expression for PTCH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTCH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTCH1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.5) and Brain - Cerebellum (x4.2).

Protein differential expression in normal tissues from HIPED for PTCH1 Gene

This gene is overexpressed in Saliva (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PTCH1 Gene



Protein tissue co-expression partners for PTCH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PTCH1 Gene:

PTCH1

SOURCE GeneReport for Unigene cluster for PTCH1 Gene:

Hs.494538

mRNA Expression by UniProt/SwissProt for PTCH1 Gene:

Q13635-PTC1_HUMAN
Tissue specificity: In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.

Evidence on tissue expression from TISSUES for PTCH1 Gene

  • Nervous system(4.7)
  • Lung(4.3)
  • Thyroid gland(3.1)
  • Skin(2.9)
  • Bone(2.3)
  • Intestine(2.1)
  • Lymph node(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTCH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
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 nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PTCH1: view

Primer Products

Orthologs for PTCH1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PTCH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTCH1 34
  • 98.93 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 97 (a)
OneToMany
PTCH1 34 35
  • 91.12 (n)
dog
(Canis familiaris)
Mammalia PTCH1 34 35
  • 90.77 (n)
mouse
(Mus musculus)
Mammalia Ptch1 34 16 35
  • 89.12 (n)
oppossum
(Monodelphis domestica)
Mammalia PTCH1 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptch1 34
  • 88.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PTCH1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTCH1 34 35
  • 79.26 (n)
lizard
(Anolis carolinensis)
Reptilia PTCH1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptch1 34
  • 74.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Ptc1 34
zebrafish
(Danio rerio)
Actinopterygii ptch1 34 35 35
  • 75.24 (n)
ptc2 34
fruit fly
(Drosophila melanogaster)
Insecta ptc 34 35
  • 53.01 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011395 34
  • 38.97 (n)
worm
(Caenorhabditis elegans)
Secernentea ptc-2 34 35
  • 48.83 (n)
ptc-1 35
  • 31 (a)
ManyToMany
ptc-3 35
  • 31 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCR1 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6336 34
Species where no ortholog for PTCH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PTCH1 Gene

ENSEMBL:
Gene Tree for PTCH1 (if available)
TreeFam:
Gene Tree for PTCH1 (if available)

Paralogs for PTCH1 Gene

Paralogs for PTCH1 Gene

(2) SIMAP similar genes for PTCH1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for PTCH1 Gene

genes like me logo Genes that share paralogs with PTCH1: view

Variants for PTCH1 Gene

Sequence variations from dbSNP and Humsavar for PTCH1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs199476091 Pathogenic, Holoprosencephaly 7 (HPE7) [MIM:610828] 95,479,038(-) AAGCG(A/G)CAGCC reference, missense
rs199476092 Pathogenic, Holoprosencephaly 7 (HPE7) [MIM:610828] 95,467,197(-) GTTTC(A/G)GTAAC nc-transcript-variant, reference, missense
rs199476093 Pathogenic, Holoprosencephaly 7 (HPE7) [MIM:610828] 95,459,764(-) TCTGG(G/T)GGATG reference, missense
rs201125580 Uncertain significance, Squamous cell carcinoma 95,467,191(+) CTTCA(C/T)GTTAC nc-transcript-variant, reference, missense
rs28936404 Holoprosencephaly 7 (HPE7) [MIM:610828]

Structural Variations from Database of Genomic Variants (DGV) for PTCH1 Gene

Variant ID Type Subtype PubMed ID
dgv1228n67 CNV gain 20364138
dgv490e215 CNV deletion 23714750
esv1011041 CNV deletion 20482838
esv1142459 CNV deletion 17803354
esv2668915 CNV deletion 23128226
esv2738802 CNV deletion 23290073
esv3266829 CNV deletion 24192839
esv5236 CNV loss 18987735
nsv1047465 CNV gain 25217958
nsv1051665 CNV gain 25217958
nsv1053434 CNV gain 25217958
nsv1053762 CNV gain 25217958
nsv1076193 CNV deletion 25765185
nsv1147999 OTHER inversion 26484159
nsv415659 CNV deletion 16902084
nsv824996 CNV gain 20364138
nsv831658 CNV gain 17160897

Variation tolerance for PTCH1 Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.38; 97.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTCH1 Gene

Human Gene Mutation Database (HGMD)
PTCH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTCH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTCH1 Gene

Disorders for PTCH1 Gene

MalaCards: The human disease database

(74) MalaCards diseases for PTCH1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
basal cell nevus syndrome
  • nevoid basal cell carcinoma syndrome
holoprosencephaly-7
  • holoprosencephaly 7
basal cell carcinoma 1
  • basal cell carcinoma, somatic
lobar holoprosencephaly
single median maxillary central incisor
  • solitary median maxillary central incisor
- elite association - COSMIC cancer census association via MalaCards
Search PTCH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTC1_HUMAN
  • Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. {ECO:0000269 PubMed:8658145, ECO:0000269 PubMed:9620294}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Basal cell nevus syndrome (BCNS) [MIM:109400]: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. {ECO:0000269 PubMed:11231326, ECO:0000269 PubMed:15459969, ECO:0000269 PubMed:8840969, ECO:0000269 PubMed:8981943, ECO:0000269 PubMed:9620294}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Holoprosencephaly 7 (HPE7) [MIM:610828]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. {ECO:0000269 PubMed:11941477, ECO:0000269 PubMed:17001668, ECO:0000269 PubMed:17096318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PTCH1

Genetic Association Database (GAD)
PTCH1
Human Genome Epidemiology (HuGE) Navigator
PTCH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTCH1
genes like me logo Genes that share disorders with PTCH1: view

No data available for Genatlas for PTCH1 Gene

Publications for PTCH1 Gene

  1. Expression patterns and polymorphisms of PTCH in Chinese hepatocellular carcinoma patients. (PMID: 18538319) Fu X. … Chen L. (Exp. Mol. Pathol. 2008) 3 22 46 64
  2. PTCH mutations in basal cell carcinomas from azathioprine-treated organ transplant recipients. (PMID: 18854826) Harwood C.A. … Karran P. (Br. J. Cancer 2008) 3 22 46 64
  3. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. (PMID: 11941477) Ming J.E. … Muenke M. (Hum. Genet. 2002) 3 4 22 64
  4. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. (PMID: 8658145) Johnson R.L. … Scott M.P. (Science 1996) 2 3 4 64
  5. Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis. (PMID: 20068110) Pan S. … Li T.J. (Clin. Cancer Res. 2010) 3 22 64

Products for PTCH1 Gene

  • Addgene plasmids for PTCH1

Sources for PTCH1 Gene

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