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TP63 tumor protein p63

Also known as: AIS; KET; LMS; NBP; RHS; p40; p51; p63; EEC3; OFC8; p73H; p73L; SHFM4; TP53L; TP73L; p53CP; TP53CP; B(p51A); B(p51B)

Summary

This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. [provided by RefSeq, Jul 2008]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-09-06)

ISCA Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2012-09-06)

ISCA Genome Curation PagePubMed

Genomic context

Location:
3q28
Sequence:
Chromosome: 3; NC_000003.12 (189631160..189897279)
Total number of exons:
17

Links

  • BioSystems
    BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView
  • SNP: Genotype
    Gene Genotype Report
  • SNP: VarView
    Related Clinical SNP
  • TP63 @ LOVD

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