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SHH sonic hedgehog signaling molecule

Gene ID: 6469, updated on 17-Jan-2022
Gene type: protein coding
Also known as: TPT; HHG1; HLP3; HPE3; SMMCI; ShhNC; TPTPS; MCOPCB5

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
GeneReviews: Not available
Holoprosencephaly 3See labs
Identification of a candidate gene for astigmatism.
GeneReviews: Not available
Microphthalmia, isolated, with coloboma 5
MedGen: C1968843OMIM: 611638GeneReviews: Not available
See labs
Schizencephaly
MedGen: C0266484OMIM: 269160GeneReviews: Not available
See labs
Solitary median maxillary central incisor syndrome
MedGen: C1840235OMIM: 147250GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-06-24)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
7q36.3
Sequence:
Chromosome: 7; NC_000007.14 (155799980..155812463, complement)
Total number of exons:
8

Links

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