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Aliases for SHH Gene

Aliases for SHH Gene

  • Sonic Hedgehog 2 3
  • MCOPCB5 3 6
  • SMMCI 3 6
  • HLP3 3 6
  • HPE3 3 6
  • Sonic Hedgehog (Drosophila) Homolog 2
  • Sonic Hedgehog Homolog (Drosophila) 2
  • Sonic Hedgehog Homolog 3
  • Sonic Hedgehog Protein 3
  • TPTPS 3
  • HHG-1 4
  • HHG1 3
  • TPT 3

External Ids for SHH Gene

Previous Symbols for SHH Gene

  • HPE3
  • HLP3

Summaries for SHH Gene

Entrez Gene Summary for SHH Gene

  • This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]

GeneCards Summary for SHH Gene

SHH (Sonic Hedgehog) is a Protein Coding gene. Diseases associated with SHH include microphthalmia with coloboma 5 and single median maxillary central incisor. Among its related pathways are Signaling by GPCR and Pathways in cancer. GO annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is IHH.

UniProtKB/Swiss-Prot for SHH Gene

  • Intercellular signal essential for a variety of patterning events during development: signal produced by the notochord that induces ventral cell fate in the neural tube and somites, and the polarizing signal for patterning of the anterior-posterior axis of the developing limb bud. Displays both floor plate- and motor neuron-inducing activity. The threshold concentration of N-product required for motor neuron induction is 5-fold lower than that required for floor plate induction. Activates the transcription of target genes by interacting with its receptor PTCH1 to prevent normal inhibition by PTCH1 on the constitutive signaling activity of SMO (By similarity).

Tocris Summary for SHH Gene

  • The hedgehog (Hh) signaling pathway is crucial in the development of all known animals. In the embryo, it regulates morphogenesis of a variety of tissues and organs, in the adult, it controls stem cell proliferation. There are three human Hh proteins; Sonic hedgehog (Shh), Desert hedgehog (Dhh) and Indian hedgehog (Ihh). Each is expressed at different times of development and in specific cell types and they are tightly controlled by highly complex, yet divergent transcriptional enhancers. Hh protein release and diffusion is controlled by various proteins including Skinny hedgehog (Sit), Dispatched (Disp), Tout-velu (Ttv) and Hedgehog-interacting protein (Hip). Hh proteins bind to the twelve transmembrane domain protein, Patched (Ptc). In the absence of Hh proteins, Ptc catalytically inhibits Smo. Hh-Ptc binding results in loss of Ptc activity and activation of Smo, which transduces the Hh signal to the cytoplasm. This leads to the activation of the Ci/GLI family of transcription factors, through complex interactions of Costal2 (Cos2), Fused (Fu) and Suppressor of fu [Su(fu)]. Furthermore, PKA, CK1, GSK-3 and Slimb modulate this signal transduction pathway. Abberant activation of the Hh pathway has been linked to multiple types of human cancer, particularly basal cell carcinoma. Disruption of Hh signaling during embryonic development, either through congenital mutation or maternal teratogen consumption, can lead to severe developmental disorders such as holoprosencephaly.

Gene Wiki entry for SHH Gene

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

Genomics for SHH Gene

Genomic Location for SHH Gene

Start:
155,799,986 bp from pter
End:
155,812,273 bp from pter
Size:
12,288 bases
Orientation:
Minus strand

Genomic View for SHH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SHH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHH Gene

Proteins for SHH Gene

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

    Protein Symbol:
    Q15465-SHH_HUMAN
    Recommended name:
    Sonic hedgehog protein
    Protein Accession:
    Q15465
    Secondary Accessions:
    • A4D247
    • Q75MC9

    Protein attributes for SHH Gene

    Size:
    462 amino acids
    Molecular mass:
    49607 Da
    Quaternary structure:
    • Interacts with HHATL/GUP1 which negatively regulates HHAT-mediated palmitoylation of the SHH N-terminus. N-product is active as a multimer. Interacts with BOC and CDON (By similarity). Interacts with HHIP.

    Three dimensional structures from OCA and Proteopedia for SHH Gene

neXtProt entry for SHH Gene

Proteomics data for SHH Gene at MOPED

Post-translational modifications for SHH Gene

  • Cholesterylation is required for N-product targeting to lipid rafts and multimerization.
  • N-palmitoylation of Cys-24 by HHAT is required for N-product multimerization and full activity.
  • The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product). The N-product is the active species in both local and long-range signaling, whereas the C-product has no signaling activity
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn278

Other Protein References for SHH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SHH Gene

Domains for SHH Gene

UniProtKB/Swiss-Prot:

SHH_HUMAN
Domain:
  • The sonic hedgehog protein N-product binds calcium and zinc ions; this stabilizes the protein fold and is essential for protein-protein interactions mediated by this domain.:
    • Q15465
Family:
  • Belongs to the hedgehog family.:
    • Q15465
genes like me logo Genes that share domains with SHH: view

No data available for Gene Families for SHH Gene

Function for SHH Gene

Molecular function for SHH Gene

GENATLAS Biochemistry: embryonic patterning gene,Drosophila segment polarity gene Sonic hedgehog homolog,general ventralizing signal,expressed in the notochord and floor plate cells,gut endoderm,posterior limb buds,inductive signal for somite differentiation and limb development at the anteroposterior axis,targetting BMP2 and HOXD genes through a FGF4 positive feedback loop,also expressed in fetal liver,lung and kidney and in hair follicle,involved in signal transduction,SHH pathway
UniProtKB/Swiss-Prot Function: Intercellular signal essential for a variety of patterning events during development: signal produced by the notochord that induces ventral cell fate in the neural tube and somites, and the polarizing signal for patterning of the anterior-posterior axis of the developing limb bud. Displays both floor plate- and motor neuron-inducing activity. The threshold concentration of N-product required for motor neuron induction is 5-fold lower than that required for floor plate induction. Activates the transcription of target genes by interacting with its receptor PTCH1 to prevent normal inhibition by PTCH1 on the constitutive signaling activity of SMO (By similarity).

LifeMap Function Summary for SHH Gene

During embryonic development, SHH as signaling molecule is secreted from the following cells
It affects the following cells:
SHH as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for SHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IEA --
GO:0005113 patched binding IDA 8906787
GO:0005509 calcium ion binding IDA 19561609
GO:0005515 protein binding IPI 19561609
GO:0005539 glycosaminoglycan binding IEA --
genes like me logo Genes that share ontologies with SHH: view
genes like me logo Genes that share phenotypes with SHH: view

Animal Models for SHH Gene

MGI Knock Outs for SHH:

miRNA for SHH Gene

miRTarBase miRNAs that target SHH

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SHH Gene

Localization for SHH Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHH Gene

Sonic hedgehog protein C-product: Secreted, extracellular space. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}.
Sonic hedgehog protein N-product: Cell membrane; Lipid-anchor. Cell membrane. Note=The N-product either remains associated with lipid rafts at the cell surface, or forms freely diffusible active multimers with its hydrophobic lipid-modified N- and C-termini buried inside. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SHH Gene COMPARTMENTS Subcellular localization image for SHH gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS --
GO:0005634 nucleus IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SHH: view

Pathways for SHH Gene

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

Pathways by source for SHH Gene

Gene Ontology (GO) - Biological Process for SHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001525 angiogenesis --
GO:0001569 patterning of blood vessels ISS --
GO:0001570 vasculogenesis ISS --
GO:0001656 metanephros development ISS --
genes like me logo Genes that share ontologies with SHH: view

Compounds for SHH Gene

(14) ApexBio Compounds for SHH Gene

Compound Action Cas Number
AY 9944 dihydrochloride Inhibitor of hedgehog (Hh) signaling [366-93-8]
AZ 12080282 dihydrochloride Inhibitor of Hedgehog (Hh) signaling
Ciliobrevin A Hedgehog (Hh) pathway antagonist [302803-72-1]
Cyclopamine Smoothened inhibitor, directly binds to Smoothened and blocks Hedgehog pathway [4449-51-8]
GANT 58 novel and potent Gli antagonist [64048-12-0]
GANT61 GLI antagonist,inhibits GLI1 and GLI2-induced transcription [500579-04-4]
GDC-0449 (Vismodegib) Hedgehog antagonist [879085-55-9]
HPI 1 Hedgehog (Hh) signaling inhibitor. [599150-20-6]
Jervine Inhibitor of Hedgehog signaling. [469-59-0]
JK 184 Potent downstream hedgehog (Hh) signaling inhibitor. [315703-52-7]
PF-5274857 novel Smo antagonist [1373615-35-0]
Purmorphamine Cell-permeable Smoothened inhibitor, activates Hedgehog pathway [483367-10-8]
SANT-1 Potent, cell-permeable inhibitor of Sonic hedgehog (Shh) signaling [304909-07-7]
SANT-2 Inhibitor of Sonic hedgehog (Shh) signaling [329196-48-7]

(5) Tocris Compounds for SHH Gene

Compound Action Cas Number
20(S)-Hydroxycholesterol Allosteric activator of Hedgehog (Hh) signaling; induces Smo accumulation [516-72-3]
AY 9944 dihydrochloride Inhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase [366-93-8]
Ciliobrevin A Hedgehog (Hh) pathway antagonist; inhibits ciliogenesis [302803-72-1]
Cyclopamine Inhibitor of Hedgehog (Hh) signaling [4449-51-8]
SANT-1 Inhibitor of hedgehog (Hh) signaling; antagonizes smoothened activity [304909-07-7]

(2) Novoseek inferred chemical compound relationships for SHH Gene

Compound -log(P) Hits PubMed IDs
cyclopamine 89.5 4
cholesterol 0 2
genes like me logo Genes that share compounds with SHH: view

Transcripts for SHH Gene

mRNA/cDNA for SHH Gene

(5) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SHH Gene

Sonic hedgehog:
Representative Sequences:

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

No ASD Table

Relevant External Links for SHH Gene

GeneLoc Exon Structure for
SHH
ECgene alternative splicing isoforms for
SHH

Expression for SHH Gene

mRNA expression in normal human tissues for SHH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (9.8), Bladder (8.4), Nerve - Tibial (6.5), and Adrenal Gland (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SHH Gene

SOURCE GeneReport for Unigene cluster for SHH Gene Hs.164537

mRNA Expression by UniProt/SwissProt for SHH Gene

Q15465-SHH_HUMAN
Tissue specificity: Expressed in fetal intestine, liver, lung, and kidney. Not expressed in adult tissues
genes like me logo Genes that share expressions with SHH: view

Orthologs for SHH Gene

This gene was present in the common ancestor of animals.

Orthologs for SHH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 37
  • 75 (a)
ManyToMany
SHH 36
  • 99.71 (n)
  • 99.57 (a)
cow
(Bos Taurus)
Mammalia SHH 36
  • 82.68 (n)
  • 81.01 (a)
SHH 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SHH 36
  • 89.15 (n)
  • 91.97 (a)
SHH 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Shh 36
  • 87.9 (n)
  • 92.79 (a)
Shh 16
Shh 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SHH 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 72 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Shh 36
  • 87.02 (n)
  • 92.55 (a)
chicken
(Gallus gallus)
Aves SHH 36
  • 81.17 (n)
  • 85.5 (a)
SHH 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHH 37
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398047 36
tropical clawed frog
(Silurana tropicalis)
Amphibia shh 36
  • 67.53 (n)
  • 70.2 (a)
zebrafish
(Danio rerio)
Actinopterygii shh 36
shha 37
  • 71 (a)
OneToMany
shhb 36
  • 65.3 (n)
  • 71.98 (a)
shhb 37
  • 67 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001412 36
  • 60 (n)
  • 54.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta hh 36
  • 58.71 (n)
  • 53.43 (a)
hh 37
  • 41 (a)
OneToMany
hh 38
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 43 (a)
ManyToMany
-- 37
  • 31 (a)
ManyToMany
Species with no ortholog for SHH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SHH Gene

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

Paralogs for SHH Gene

Paralogs for SHH Gene

Selected SIMAP similar genes for SHH Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SHH Gene

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

Variants for SHH Gene

Sequence variations from dbSNP and Humsavar for SHH Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs288745 -- 155,813,642(+) TTTTT(A/T)AAAAA upstream-variant-2KB
rs288746 -- 155,813,978(-) CCTCT(C/T)ATGCC upstream-variant-2KB
rs756884 -- 155,811,405(+) ACAGT(A/G)CCAGG intron-variant
rs872723 -- 155,813,050(+) CTGCT(C/T)TTTTA upstream-variant-2KB
rs1225378 -- 155,813,641(+) TTTTT(A/T)TAAAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv509227 CNV Insertion 20534489
nsv889560 CNV Loss 21882294
dgv7559n71 CNV Loss 21882294
esv2663062 CNV Deletion 23128226

Relevant External Links for SHH Gene

HapMap Linkage Disequilibrium report
SHH
Human Gene Mutation Database (HGMD)
SHH

Disorders for SHH Gene

(4) OMIM Diseases for SHH Gene (600725)

UniProtKB/Swiss-Prot

SHH_HUMAN
  • Microphthalmia, isolated, with coloboma, 5 (MCOPCB5) [MIM:611638]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269 PubMed:12503095}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Holoprosencephaly 3 (HPE3) [MIM:142945]: 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. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described. {ECO:0000269 PubMed:10441331, ECO:0000269 PubMed:10556296, ECO:0000269 PubMed:11479728, ECO:0000269 PubMed:15107988, ECO:0000269 PubMed:15221788, ECO:0000269 PubMed:15942952, ECO:0000269 PubMed:15942953, ECO:0000269 PubMed:17001669, ECO:0000269 PubMed:19603532, ECO:0000269 PubMed:8896572, ECO:0000269 PubMed:9302262}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Solitary median maxillary central incisor (SMMCI) [MIM:147250]: Rare dental anomaly characterized by the congenital absence of one maxillary central incisor. {ECO:0000269 PubMed:11471164, ECO:0000269 PubMed:15103725}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Triphalangeal thumb-polysyndactyly syndrome (TPTPS) [MIM:174500]: Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development. {ECO:0000269 PubMed:12837695, ECO:0000269 PubMed:18417549}. Note=The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH expression.
  • Preaxial polydactyly 2 (PPD2) [MIM:174500]: Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. Note=The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH and result in abnormal, ectopic SHH expression with pathological consequences (PubMed:12837695). {ECO:0000269 PubMed:12837695}.
  • Hypoplasia or aplasia of tibia with polydactyly (THYP) [MIM:188740]: An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. {ECO:0000269 PubMed:19847792, ECO:0000269 PubMed:24965254}. Note=The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH and result in abnormal, ectopic SHH expression with pathological consequences. {ECO:0000303 PubMed:19847792, ECO:0000303 PubMed:24965254}.
  • Laurin-Sandrow syndrome (LSS) [MIM:135750]: A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome). {ECO:0000269 PubMed:24456159}. Note=The gene represented in this entry is involved in disease pathogenesis. Abnormal SHH limb expression with pathological consequences is caused by duplications (16-75 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5 (PubMed:24456159).

(15) Novoseek inferred disease relationships for SHH Gene

Disease -log(P) Hits PubMed IDs
holoprosencephaly 94.3 15
cyclopia 82.8 1
semilobar holoprosencephaly 73.4 2
polydactyly 70.7 3
cleft lip 62.8 1

Relevant External Links for SHH

GeneTests
SHH
GeneReviews
SHH
Genetic Association Database (GAD)
SHH
Human Genome Epidemiology (HuGE) Navigator
SHH
genes like me logo Genes that share disorders with SHH: view

Publications for SHH Gene

  1. Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. (PMID: 7590746) Marigo V. … Tabin C. (Genomics 1995) 2 3 4 23
  2. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. (PMID: 10556296) Nanni L. … Muenke M. (Hum. Mol. Genet. 1999) 3 4 23
  3. Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. (PMID: 10441331) Odent S. … Vekemans M. (Hum. Mol. Genet. 1999) 3 4 23
  4. SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity. (PMID: 12709790) Schell-Apacik C. … Ming J.E. (Hum. Genet. 2003) 3 23 49
  5. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. (PMID: 15221788) Dubourg C. … David V. (Hum. Mutat. 2004) 3 4 23

Products for SHH Gene

  • Addgene plasmids for SHH

Sources for SHH Gene

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