LP19682-1
CDH1 gene
Active
Description
The CDH1 gene (cadherin 1, type 1, E-cadherin (epithelial)) [HGNC Gene ID:1748] is located on chromosome 16q22.1. This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008] [NCBI Gene ID:999] 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 Name
- CDH1 gene
- Part Display Name
- CDH1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- CDH1 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/$lookup?system=http: //loinc.org&code=LP19682-1 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP19682-1
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | CDH1 基因 Synonyms: CDHE; |
et-EE | Estonian (Estonia) | CDH1 geen |
es-ES | Spanish (Spain) | Gen CDH1 |
it-IT | Italian (Italy) | CDH1, gene Synonyms: Gene CDH1 |
tr-TR | Turkish (Turkey) | CDH1 geni |
ru-RU | Russian (Russian Federation) | CDH1 ген |
nl-NL | Dutch (Netherlands) | CDH1-gen Synonyms: CDH1 gen |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://