96972-5
PTEN gene deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP61787-5 PTEN gene
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, also known as phosphate and tensin homolog or PTEN protein, is encoded by the PTEN gene on chromosome10q23.31. PTEN protein has multiple functions, including protein phosphatase and lipid phosphatase activity. The lipid phosphatase function is critical for its role as a tumor suppressor and modulating cell cycle progression and cell survival. It also plays a role in correct neuron positioning, dendritic development and synapse formation, and may be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. Mutations in the PTEN gene are associated with multiple disorders, including PTEN hamartoma tumor syndromes, which include Cowden syndrome and Lhermitte-Duclos disease, squamous cell carcinoma of the head and neck, endometrial carcinoma, prostate cancer, and VACTERL with hydrocephalus. [UniProt: P60484] Loss of the PTEN gene can be determined by various techniques, including FISH, and loss of the PTEN protein can be detected by immunohistochemistry techniques.
Source: Regenstrief LOINC, UniProt: P60484
Fully-Specified Name
- Component
- PTEN gene deletion+duplication
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- PTEN gene Del+Dup Bld/T
- Display Name
- PTEN gene del and dup mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- PTEN gene deletion/duplication analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.DELDUP
- Type
- Laboratory
- First Released
- Version 2.70
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen PTEN Delección+duplicación: |
es-MX | Spanish (Mexico) | Deleción + duplicación del gen PTEN: |
fr-FR | French (France) | PTEN gène délétion+duplication: |
it-IT | Italian (Italy) | PTEN, gene Delezione+duplicazione: Synonyms: delezione e duplicazione Delezione o duplicazione genica Gene PTEN Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | PTEN-gen deletie + duplicatie: Synonyms: molgen PTEN gen |
ru-RU | Russian (Russian Federation) | PTEN ген делеция+дупликация: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | PTEN geni delesyon+duplikasyon: Synonyms: çiftleme |
zh-CN | Chinese (China) | PTEN 基因 缺失+重复: Synonyms: Bannayan-Zonana 综合征(Bannayan-Zonana syndrome, |
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