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8 Possible Causes for Mutation in the Tumor Protein p63 Gene

  • Rapp-Hodgkin Syndrome

    CAUSES General: Rapp-Hodgkin syndrome (RHS) is believed to be caused by a mutation or defect in the TP73L gene, which produces several variants of the p73-like tumor protein[health24.com] The official name of the gene mutated in AEC syndrome is tumor protein 63 ( TP63 ).[rarediseases.org] Gene function: p73-like tumor protein (p73L) may have tumor suppressor function. p63 and p73 were examined for their roles in DNA damage-induced apoptosis and it was found[health24.com]

  • Ectrodactyly

    Ectrodactyly-ectodermal dysplasia-clefting syndrome, the result of a mutation in the gene encoding tumor protein p63, causes ocular surface disease.[ncbi.nlm.nih.gov]

  • Congenital Ankyloblepharon

    The official name of the gene mutated in AEC syndrome is tumor protein 63 ( TP63 ).[rarediseases.org] The TP63 gene contains instructions for synthesizing (encoding) a protein (p63) that is essential for the proper development of structures derived from the ectoderm.[rarediseases.org] Depending upon the functions of the particular protein, this can affect many organ systems of the body.[rarediseases.org]

  • Autosomal Dominant Congenital Nystagmus 7

    SHFM4) is caused by heterozygous mutation in the tumor protein p63 gene (TP63; 603273) on chromosome 3q28.[findzebra.com] Mutations in the RELN gene have been identified in some affected individuals Description A number sign (#) is used with this entry because split-hand/foot malformation-4 ([findzebra.com]

  • Ectrodactyly-Cleft Palate Syndrome

    This gene encodes a protein corresponding to a transcription factor protein called p63 tumor (p63).[ivami.com] Discussion The EEC syndrome [OMIM: 129900] is a rare autosomal dominant disorder attributed to mutations in gene encoding for p63, a tumor suppressor protein, involving both[bioline.org.br] They are generated by mutations in the TP63 gene, located on the long arm of chromosome 3 (3q28).[ivami.com]

  • Split Hand-Split Foot Malformation Type 1

    OMIM TP63 or p63 (the tumor protein p63 gene) The p63 gene is involved in apoptosis , a process required in the development of the hands and feet.[snpedia.com] OMIM Several mutations in the p63 gene appear to cause ectrodactyly, ectodermal, dysplasia, and cleft lip/palate syndrome 3 (EEC3), a dominant disorder. [ OMIM ] OMIM 119100[snpedia.com]

  • Zlotogora-Ogur Syndrome

    Discussion The EEC syndrome [OMIM: 129900] is a rare autosomal dominant disorder attributed to mutations in gene encoding for p63, a tumor suppressor protein, involving both[bioline.org.br]

  • Hay-Wells Syndrome

    Causes General : Hay-Wells syndrome is believed to be caused by a mutation or defect in the TP73L gene, which produces several variants of the p73-like tumor protein (p73L[naturallivingcenter.net] ), known as p40, p51, and p63.[naturallivingcenter.net]

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