Version 2.78

Description

The TRPS1 gene (trichorhinophalangeal syndrome I) [HGNC Gene ID:12340] is located on chromosome 8q24.12. This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7227] 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
TRPS1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-01-06
Construct for LOINC Short Name
TRPS1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34984-2
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34984-2

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) TRPS1 基因
Synonyms: GC79;TRPSI;发鼻指(趾)综合征 1;发鼻指综合征 1;毛发、鼻、指(趾)综合征 1;毛髪鼻指節骨症候群 1
et-EE Estonian (Estonia) TRPS1 geen
es-ES Spanish (Spain) Gen TRPS1
it-IT Italian (Italy) TRPS1, gene
Synonyms: Gene TRPS1
tr-TR Turkish (Turkey) TRPS1 geni
ru-RU Russian (Russian Federation) TRPS1 ген
nl-NL Dutch (Netherlands) TRPS1-gen
Synonyms: TRPS1 gen