Description

The TARDBP gene [HGNC Gene ID: 483] is located on chromosome 1p36.22. It encodes the 43-kD TAR DNA-binding protein, which was originally identified as a transcriptional repressor that binds to TAR DNA of human immunodeficiency virus type 1. It is also involved in regulation of gene expression and splicing. Allelic variants of TARDBP are the cause of Amyotrophic lateral sclerosis 10 phenotype, with or without frontotemporal dementia.[OMIM: 605078] Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: Online Mendelian Inheritance in Man®

Basic Part Properties

Part Name
TARDBP gene
Part Display Name
TARDBP gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-04-30
Construct for LOINC Short Name
TARDBP gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP190763-5

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)TARDBP 基因
Synonyms: TAR DNA 结合蛋白;TAR DNA-结合蛋白 43;TAR DNA-结合蛋白-43;TAR DNA Binding Protein;TAR DNA-Binding Protein 43;TAR DNA-Binding Protein-43;TDP-43;ALS10;TDP43
es-ESSpanish (Spain)Gen TARDBP
it-ITItalian (Italy)TARDBP, gene
Synonyms: Gene TARDBP
tr-TRTurkish (Turkey)TARDBP geni
nl-NLDutch (Netherlands)TARDBP-gen
Synonyms: TARDBP gen
fr-FRFrench (France)TARDBP gène
pl-PLPolish (Poland)TARDBP gen
Synonyms: Gen TARDBP
el-GRGreek (Greece)Γονίδιο TARDBP
Synonyms: Γονίδιο TARDBP