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Holoprosencephaly, the failure of the embryonic prosencephalon to divide to form cerebral hemispheres, occurs with a frequency of about 1 in 8,000 live births and about 1 in 200 spontaneous abortions in humans and is commonly linked to mutations in genes involved in the hedgehog pathway, including SHH and PTCH. [37]
PTCH1 is a member of the patched gene family and is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor .
It is the result of abnormal activity by the protein SHH (sonic hedgehog). [7] [8] [9] (The name of this protein was inspired by the Sonic the Hedgehog video game character and is part of an idiosyncratic naming tradition in molecular biology research.) [10] [11]
The classical Hedgehog signaling pathway involves glycoproteins that are secreted by cells into the intercellular space. Multiple such glycoproteins have been characterized: Sonic Hedgehog (Shh), Indian Hedgehog (Ihh), and Desert Hedgehog (Dhh). [16] Among these, Shh is the most potent.
Some cases of polydactyly are caused by mutations in the ZRS, a genetic enhancer that regulates expression of the sonic hedgehog (SHH) gene in the limb. [1] The SHH protein is an important signalling molecule involved in patterning of many body elements, including limbs and digits.
[2] [6] [9] The specific mutations leading to polysyndactyly are varied between among types of the condition and different families. However, many cases are caused by changes to genetic elements affecting the signaling molecule Sonic Hedgehog (SHH) .
RAB23 is an essential negative regulator of the Sonic hedgehog signaling pathway. [6] The first understanding of biological processes requiring the Rab23 gene came from 2 independent mouse mutations in the gene [9] [10] and an epistasis analysis with mutations in the mouse shh gene. [6]
2735 14632 Ensembl ENSG00000111087 ENSMUSG00000025407 UniProt P08151 P47806 RefSeq (mRNA) NM_001160045 NM_001167609 NM_005269 NM_010296 RefSeq (protein) NP_001153517 NP_001161081 NP_005260 NP_034426 Location (UCSC) Chr 12: 57.46 – 57.47 Mb Chr 10: 127.17 – 127.18 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Zinc finger protein GLI1 also known as glioma-associated oncogene is a ...