LP61787-5
PTEN gene
Active
Description
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
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
- PTEN gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-12-12
- Construct for LOINC Short Name
- PTEN gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP61787-5 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP61787-5
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PTEN 基因 Synonyms: Bannayan-Zonana 综合征（Bannayan-Zonana syndrome， |
| et-EE | Estonian (Estonia) | PTEN geen |
| es-ES | Spanish (Spain) | Gen PTEN |
| it-IT | Italian (Italy) | PTEN, gene Synonyms: Gene PTEN |
| tr-TR | Turkish (Turkey) | PTEN geni |
| ru-RU | Russian (Russian Federation) | PTEN ген |
| nl-NL | Dutch (Netherlands) | PTEN-gen Synonyms: PTEN gen |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright