Rabbit anti-Human Sonic Hedgehog (Shh) Monoclonal Antibody

Uniprot Id

Q15465

Target Species

Human

Target Name

SHH

Target Full Name

Sonic hedgehog protein

Target Function

The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN. Both activities occur in the reticulum endoplasmic. Once cleaved, ShhC is degraded in the endoplasmic reticulum.; The dually lipidated sonic hedgehog protein N-product (ShhNp) is a morphogen which is essential for a variety of patterning events during development. Induces ventral cell fate in the neural tube and somites. Involved in the patterning of the anterior-posterior axis of the developing limb bud. Essential for axon guidance. Binds to the patched (PTCH1) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. In the absence of SHH, PTCH1 represses the constitutive signaling activity of SMO.

Target Involvement

Microphthalmia, isolated, with coloboma, 5 (MCOPCB5); Holoprosencephaly 3 (HPE3); Solitary median maxillary central incisor (SMMCI); Triphalangeal thumb-polysyndactyly syndrome (TPTPS); Preaxial polydactyly 2 (PPD2); Hypoplasia or aplasia of tibia with polydactyly (THYP); Laurin-Sandrow syndrome (LSS)

Target Subcellular Location

Endoplasmic reticulum membrane. Golgi apparatus membrane.; [Sonic hedgehog protein N-product]: Cell membrane; Lipid-anchor.

Target Protein Families

Hedgehog family

Target Synonyms

HHG 1; HHG-1; HHG1; HLP 3; HLP3; Holoprosencephaly 3; HPE 3; HPE3; MCOPCB5; shh; SHH_HUMAN; SMMC I; SMMCI; Sonic Hedgehog (Drosophila) homolog; sonic hedgehog homolog (Drosophila); Sonic hedgehog homolog; Sonic hedgehog protein; Sonic hedgehog protein C-product; TPT; TPTPS

Target Background

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.