Version 2.80

Description

The MDCR gene (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon) gene is located on chromosome 17p13.3. This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008] [NCBI Gene ID:7531] 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
MDCR gene
Part Display Name
MDCR gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2007-04-19
Construct for LOINC Short Name
MDCR gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP63483-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP63483-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MDCR 基因
Synonyms: LIS1;MDS;Miller-Dieker 综合征;Miller-Dieker 综合征(一种以无脑回和特殊面容为特征的复杂综合征);Miller-Dieker 综合征染色体区域;Miller-Dieker 综合征染色体区域(Miller-Dieker syndrome chromosome region);YWHAE;敏-迪综合征;敏-迪综合征染色体区域;米-迪综合征;米-迪综合征染色体区域
es-ES Spanish (Spain) Gen MDCR
it-IT Italian (Italy) MDCR, gene
Synonyms: Gene MDCR
et-EE Estonian (Estonia) MDCR geen
tr-TR Turkish (Turkey) MDCR geni
ru-RU Russian (Russian Federation) MDCR ген
nl-NL Dutch (Netherlands) MDCR-gen
Synonyms: MDCR gen
el-GR Greek (Greece) Γονίδιο MDCR
Synonyms: Γονίδιο MDCR