PTCH1

Patched homolog 1 (Drosophila)
Identifiers
Symbols	PTCH1 ; PTC; BCNS; FLJ42602; HPE7; NBCCS; PTC1; PTCH
External IDs	Template:OMIM5 Template:MGI HomoloGene: 223
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PTCH1 209815 at tn.png
File:PBB GE PTCH1 208522 s at tn.png
File:PBB GE PTCH1 209816 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Patched homolog 1 (Drosophila), also known as PTCH1, is a human gene.

This gene encodes a member of the patched gene family. The encoded protein 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. Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome, 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. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.

Further reading

• Villavicencio EH, Walterhouse DO, Iannaccone PM (2000). "The sonic hedgehog-patched-gli pathway in human development and disease". Am. J. Hum. Genet. 67 (5): 1047–54. PMID 11001584.CS1 maint: Multiple names: authors list (link)
• Corcoran RB, Scott MP (2002). "A mouse model for medulloblastoma and basal cell nevus syndrome". J. Neurooncol. 53 (3): 307–18. PMID 11718263.
• Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG (2006). "PTCH mutations: distribution and analyses". Hum. Mutat. 27 (3): 215–9. doi:10.1002/humu.20296. PMID 16419085.CS1 maint: Multiple names: authors list (link)
• Gailani MR, Bale SJ, Leffell DJ; et al. (1992). "Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9". Cell. 69 (1): 111–7. PMID 1348213.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hahn H, Christiansen J, Wicking C; et al. (1996). "A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities". J. Biol. Chem. 271 (21): 12125–8. PMID 8647801.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Johnson RL, Rothman AL, Xie J; et al. (1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome". Science. 272 (5268): 1668–71. PMID 8658145.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hahn H, Wicking C, Zaphiropoulous PG; et al. (1996). "Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome". Cell. 85 (6): 841–51. PMID 8681379.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8782823.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8840969.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Stone DM, Hynes M, Armanini M; et al. (1996). "The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog". Nature. 384 (6605): 129–34. doi:10.1038/384129a0. PMID 8906787.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wicking C, Shanley S, Smyth I; et al. (1997). "Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident". Am. J. Hum. Genet. 60 (1): 21–6. PMID 8981943.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lench NJ, Telford EA, High AS; et al. (1997). "Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome". Hum. Genet. 100 (5–6): 497–502. PMID 9341860.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aszterbaum M, Rothman A, Johnson RL; et al. (1998). "Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome". J. Invest. Dermatol. 110 (6): 885–8. doi:10.1046/j.1523-1747.1998.00222.x. PMID 9620294.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Carpenter D, Stone DM, Brush J; et al. (1998). "Characterization of two patched receptors for the vertebrate hedgehog protein family". Proc. Natl. Acad. Sci. U.S.A. 95 (23): 13630–4. PMID 9811851.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Liu JH, Wei S, Burnette PK; et al. (1999). "Functional association of TGF-beta receptor II with cyclin B.". Oncogene. 18 (1): 269–75. doi:10.1038/sj.onc.1202263. PMID 9926943.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hasenpusch-Theil K, Bataille V, Laehdetie J; et al. (1999). "Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online". Hum. Mutat. 11 (6): 480. doi:10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4. PMID 10200051.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dong J, Gailani MR, Pomeroy SL; et al. (2000). "Identification of PATCHED mutations in medulloblastomas by direct sequencing". Hum. Mutat. 16 (1): 89–90. doi:10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7. PMID 10874314.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reifenberger J, Arnold N, Kiechle M; et al. (2001). "Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer". J. Invest. Dermatol. 116 (3): 472–4. doi:10.1046/j.1523-1747.2001.01279-2.x. PMID 11231326.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)