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TP73L
Tumor protein p63, typically referred to as p63, also known as transformation-related protein 63, is a protein that in humans is encoded by the ''TP63'' (also known as the '' p63'') gene. The ''TP63'' gene was discovered 20 years after the discovery of the ''p53'' tumor suppressor gene and along with ''p73'' constitutes the ''p53'' gene family based on their structural similarity. Despite being discovered significantly later than ''p53'', phylogenetic analysis of ''p53'', ''p63'' and ''p73'', suggest that ''p63'' was the original member of the family from which ''p53'' and ''p73'' evolved. Function Tumor protein p63 is a member of the p53 family of transcription factors. 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. TP63 encodes for two main isoforms by alternative promoters (TAp63 and ΔNp63). ΔNp63 is involved in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hay–Wells Syndrome
Hay–Wells syndrome (also known as AEC syndrome; see ''#Naming, Naming'') is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissue (biology), tissues that arise from the ectodermal germ layer, such as skin, hair, and nails. Genetics Hay–Wells syndrome is autosomal Dominance (genetics), dominant, caused by a missense mutation in the Sterile alpha motif (SAM) of the ''TP73L'' (p63) gene which encodes for a protein-protein interaction domain. It is a very rare disorder. Hay–Wells syndrome is an autosomal dominant pattern of inheritance. The syndrome is thought to arise from a missense mutation in a gene pivotal for the proper development of craniofacial structures and extremities, as well as skin differentiation. Specifically, mutations within the Tumor Protein 63 gene have been implicated in Hay–Wells syndrome. Residing on the long-arm of chromosome 3, the Tumor Protein 63 (TP63) gene is critical for proper development and homeostasis of s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
