LP33342-4
TP73L gene
Active
Description
The TP73L gene (tumor protein p63) gene is located on chromosome 3q28. 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] [NCBI Gene ID:8626] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- TP73L gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-04-12
- Construct for LOINC Short Name
- TP73L gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | TP73L 基因 Synonyms: Ectrodactyly, ectodermal dysplasia, and cleft palate syndrome; |
| et-EE | Estonian (Estonia) | TP73L geen |
| es-ES | Spanish (Spain) | Gen TP73L |
| it-IT | Italian (Italy) | TP73L, gene Synonyms: Gene TP73L |
| tr-TR | Turkish (Turkey) | TP73L geni |
| ru-RU | Russian (Russian Federation) | TP73L ген |
| nl-NL | Dutch (Netherlands) | TP73L-gen Synonyms: TP73L gen |
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