About: PTCH1 wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • PTCH1 wt Allele
equivalentClass
OMIM_Number
  • 601309
GenBank_Accession_Number
  • U43148
Semantic_Type
  • Gene or Genome
Preferred_Name
  • PTCH1 wt Allele
UMLS_CUI
  • C1705339
GO_Annotation
  • embryogenesis and morphogenesisGO:0007345TAS29-SEP-2003CGAP
  • integral to plasma membraneGO:0005887TAS29-SEP-2003CGAP
  • receptor activityGO:0004872TAS29-SEP-2003CGAP
  • cell proliferationGO:0008283TAS29-SEP-2003CGAP
  • signal transductionGO:0007165TAS29-SEP-2003CGAP
EntrezGene_ID
  • 5727
Legacy_Concept_Name
  • PTCH_wt_Allele
HGNC_ID
  • HGNC:9585
FULL_SYN
  • PTCSYNCI
  • PTCH1 wt AllelePTNCI
  • HPE7SYNCI
  • PTC1SYNCI
  • BCNSSYNCI
  • PTCHSYNCI
  • NBCCSSYNCI
  • Patched Homolog 1 (Drosophila) wt AlleleSYNCI
Gene_Encodes_Product
  • Patched
DEFINITION
  • Human PTCH1 wild-type allele is located in the vicinity of 9q22.3 and is approximately 65 kb in length. This allele, which encodes protein patched homolog 1 protein, plays a role in embryonic structure formation and tumor suppression. Mutations of the gene have been associated with several cancers and disease phenotypes, including: nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, and holoprosencephaly.NCI
code
  • C51720
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