Function
The dually lipidated sonic hedgehog protein N-product (ShhN) is a morphogen that activates the smoothened signaling pathway, and which is essential for a variety of patterning events during development. Acts by binding to the patched receptor (PTCH1 or PTCH2), relieving smoothened (SMO) inhibition by patched, activating the smoothened signaling pathway and transcription of target genes. In the absence of SHH, patched represses the constitutive signaling activity of SMO.
Biological Context
Subcellular Location: Secreted; Cell membrane (Lipid-anchor)
Disease Association: Microphthalmia/Coloboma 5 (MCOPCB5) : 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). [The disease is caused by variants affecting the gene represented in this entry] | Holoprosencephaly 3 (HPE3) : A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. The majority of HPE3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described. [The disease is caused by variants affecting the gene represented in this entry] | Solitary median maxillary central incisor (SMMCI) : Rare dental anomaly characterized by the congenital absence of one maxillary central incisor. [The disease is caused by variants affecting the gene represented in this entry] | Triphalangeal thumb with polysyndactyly (TPTPS) : 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. [The gene represented in this entry is involved in disease pathogenesis. SHH expression is altered due to disease-causing variants located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH] | Preaxial polydactyly 2 (PPD2) : Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. [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 ] | Hypoplasia or aplasia of tibia with polydactyly (THYP) : An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. [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] | Laurin-Sandrow syndrome (LSS) : 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). [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 ]
Product Specifications
Recombinant Human Sonic hedgehog protein (SHH), partial (Active) is a recombinant protein from Homo sapiens (Human), expressed in E.Coli, covering amino acids 22-197aa, with Tag-Free tag, molecular weight 19.8 kDa, purity >98% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
