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.
- Ectrodactyly-ectodermal Dysplasia-cleft Syndrome (EEC).
- Hay-Wells syndrome.
- Limb-mammary syndrome.
- Orofacial cleft type-8.
- Premature ovarian failure type-21.
- Rapp-Hodgkin syndrome.
- 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 |
