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“P63-tumor Protein”, Victor McKusick, Mendelian Inheritance in Man, 1966. P63-肿瘤蛋白。

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Here I present: “P63-tumor Protein”, Victor McKusick, Mendelian Inheritance in Man’, 1966. P63-肿瘤蛋白。

INTRODUCTION.

At least 42 disease-causing mutations in P63-tumor protein (TP63) gene have been discovered. TP63 mutations underlie several malformation syndromes that include cleft lip and/or palate as a hallmark feature.  Mutations in the TP63 gene are associated with ectrodactyly-ectodermal dysplasia-cleft syndrome in which a midline cleft lip is a common feature,  cleft lip/palate syndrome 3 (EEC3); ectrodactyly (also known as split-hand/foot malformation 4 (SHFM4)); ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) or Hay–Wells syndrome in which a midline cleft lip is also a common feature,  

A list of seven (7) TP63 disorders at cytogenetic location 3q28 and genomic coordinates 3:189,596,746-189,897,276  is given BELOW.

  1. Ectrodactyly-ectodermal  Dysplasia-cleft Syndrome (EEC).
  2. Hay-Wells syndrome.
  3. Limb-mammary syndrome.
  4. Orofacial cleft type-8.
  5. Premature ovarian failure type-21.
  6. Rapp-Hodgkin syndrome.
  7. Split-hand/foot malformation type-4.

The P63-tumor protein (TP63) gene is encoded on cytogenetic location 3q28 and genomic coordinates 3:189,596,746-189,897,276 . The screenshot of the TP63 gene 300,531 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TP63 in the 3q28 cytogenetic location are listed BENEATH.

 

Coordinate  Symbol  Genomic Name
3:188,153,021  LPP Lipoma-preferred-partner gene
3:188,200,001  CELIAC11 Celiac disease, susceptibility to, 11
3:188,200,001  LNCR5 Lung cancer susceptibility 5
3:188,688,781  MIR28 Micro RNA 28
3:189,596,746  TP63  TP63
  Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 
  Hay-Wells syndrome
  Limb-mammary syndrome
  Orofacial cleft 8
  Premature ovarian failure 21
  Rapp-Hodgkin syndrome
  Split-hand/foot malformation 4
3:189,956,728  P3H2 Prolyl 3-hydroxylase 2
3:190,290,361  CLDN16 Claudin 16 (paracellin 1)
3:190,305,707  CLDN1 Claudin 1
3:190,428,655  TMEM207 Transmembrane protein 207
3:190,514,085  IL1RAP Interleukin 1 receptor accessory protein

 

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