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[10] [11] [12] At least three Hedgehog pathway inhibitors have been approved by the Food and Drug Administration (FDA) for cancer treatment. [12] These include vismodegib [13] and sonidegib, [14] both inhibitors of Smoothened (SMO), which are being used for the treatment of basal cell carcinoma.
Activation of the hedgehog pathway has been implicated in the development of cancers in various organs, including brain, lung, mammary gland, prostate and skin. Basal cell carcinoma, the most common form of cancerous malignancy, has the closest association with hedgehog signaling.
Vismodegib, sold under the brand name Erivedge, is a medication used for the treatment of basal-cell carcinoma (BCC). [3] The approval of vismodegib on January 30, 2012, represents the first Hedgehog signaling pathway targeting agent to gain U.S. Food and Drug Administration (FDA) approval. [4]
The Hedgehog signaling pathway, which promotes cell proliferation and differentiation, is involved in more than 50% of cancers. [9] Mutations in PTCH1 could reverse its inhibition of smoothened (SMO) and upregulate the Hedgehog pathway. [7]
It also is the target of vismodegib, the first hedgehog pathway inhibitor to be approved by the U.S. Food and Drug Administration (FDA). [8] Smoothened (Smo) is a key transmembrane protein that is a key component of the hedgehog signaling pathway, a cell-cell communication system critical for embryonic development and adult tissue homeostasis.
Basal-cell carcinoma (BCC), also known as basal-cell cancer, basalioma [7] or rodent ulcer, [8] is the most common type of skin cancer. [2] It often appears as a painless raised area of skin, which may be shiny with small blood vessels running over it . [ 1 ]
Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome (AKA Gorlin's Syndrome), [7] esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms.
19207 Ensembl ENSG00000117425 ENSMUSG00000028681 UniProt Q9Y6C5 O35595 RefSeq (mRNA) NM_003738 NM_001166292 NM_008958 NM_001312903 RefSeq (protein) NP_001159764 NP_003729 NP_001299832 NP_032984 Location (UCSC) n/a Chr 4: 116.95 – 116.97 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Patched 2 is a protein that in humans is encoded by the PTCH2 gene. Function This gene encodes a ...