Version 2.78

Description

The TWIST1 gene (twist family bHLH transcription factor 1) [HGNC Gene ID:12428] is located on chromosome 7p21.2. Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7291] 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 Display Name
TWIST1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-13
Construct for LOINC Short Name
TWIST1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33176-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33176-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) TWIST1 基因
Synonyms: ACS3;BPES2;BPES3;H-twist;H-twist 基因;Saethre-Chotzen 综合征;SCS;TWIST;塔头-并指畸形症 3;尖头并指(趾)畸形 3;尖头并指畸形 3
et-EE Estonian (Estonia) TWIST1 geen
es-ES Spanish (Spain) Gen TWIST1
it-IT Italian (Italy) TWIST1, gene
Synonyms: Gene TWIST1
tr-TR Turkish (Turkey) TWIST1 geni
ru-RU Russian (Russian Federation) TWIST1 ген
nl-NL Dutch (Netherlands) TWIST1-gen
Synonyms: TWIST1 gen