Sonic Hedgehog protein (Active) (ab75431)
Constituents: 10mM Sodium phosphate, pH 7.5
Our Abpromise guarantee covers the use of ab75431 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Determined by its ability to induce alkaline phosphatase production by C3H10T1/2 fibroblasts, with an expected ED50 in the range of 0.05 - 0.25 ug/ml.
SDS-PAGE: Use at an assay dependent dilution.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
- HHG 1HHG-1HHG1
- HLP 3HLP3Holoprosencephaly 3HPE 3HPE3MCOPCB5SHHSHH_HUMANSMMC ISMMCISonic Hedgehog (Drosophila) homologSonic hedgehog homologsonic hedgehog homolog (Drosophila)Sonic hedgehog proteinSonic hedgehog protein C-productTPTTPTPS
Defects in SHH are the cause of holoprosencephaly type 3 (HPE3) [MIM:142945]. Holoprosencephaly (HPE) [MIM:236100] is the most common 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 HPE3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described. Interestingly, up to 30% of obligate carriers of HPE3 gene in autosomal dominant pedigrees are clinically unaffected.
Defects in SHH are a cause of solitary median maxillary central incisor (SMMCI) [MIM:147250]. SMMCI is a rare dental anomaly characterized by the congenital absence of one maxillary central incisor.
Defects in SHH are the cause of triphalangeal thumb-polysyndactyly syndrome (TPTPS) [MIM:174500]. TPTPS is an autosomal dominant syndrome characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development. TPTPS mutations have been mapped to the 7q36 locus in the LMBR1 gene which contains in its intron 5 a long-range cis-regulatory element of SHH expression.
modificationsThe 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.
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.
References for Sonic Hedgehog protein (Active) (ab75431)
ab75431 has not yet been referenced specifically in any publications.