Protein patched homolog 1 is a
protein that is the member of the
patched family and in humans is encoded by the PTCH1gene.[5][6]
Function
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. The PTCH1 gene product, is a
transmembrane protein that suppresses the release of another protein called
smoothened, and when sonic hedgehog binds PTCH1, smoothened is released and signals cell proliferation.
^Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC (December 2006). "GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?". Am. J. Med. Genet. A. 140 (23): 2571–6.
doi:
10.1002/ajmg.a.31370.
PMID17096318.
S2CID21019963.
^Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A (July 2010). "Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients". Am. J. Med. Genet. A. 152A (7): 1688–94.
doi:
10.1002/ajmg.a.33466.
PMID20583177.
S2CID25445281.
Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, et al. (1996). "The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas". Nat. Genet. 14 (1): 78–81.
doi:
10.1038/ng0996-78.
PMID8782823.
S2CID5221628.
Chidambaram A, Goldstein AM, Gailani MR, et al. (1996). "Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients". Cancer Res. 56 (20): 4599–601.
PMID8840969.
Protein patched homolog 1 is a
protein that is the member of the
patched family and in humans is encoded by the PTCH1gene.[5][6]
Function
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. The PTCH1 gene product, is a
transmembrane protein that suppresses the release of another protein called
smoothened, and when sonic hedgehog binds PTCH1, smoothened is released and signals cell proliferation.
^Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC (December 2006). "GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?". Am. J. Med. Genet. A. 140 (23): 2571–6.
doi:
10.1002/ajmg.a.31370.
PMID17096318.
S2CID21019963.
^Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A (July 2010). "Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients". Am. J. Med. Genet. A. 152A (7): 1688–94.
doi:
10.1002/ajmg.a.33466.
PMID20583177.
S2CID25445281.
Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, et al. (1996). "The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas". Nat. Genet. 14 (1): 78–81.
doi:
10.1038/ng0996-78.
PMID8782823.
S2CID5221628.
Chidambaram A, Goldstein AM, Gailani MR, et al. (1996). "Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients". Cancer Res. 56 (20): 4599–601.
PMID8840969.