Version 2.78

Description

The TH gene (tyrosine hydroxylase) [HGNC Gene ID:11782] is located on chromosome 11p15.5. The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7054] 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
TH gene
Part Display Name
TH gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-29
Construct for LOINC Short Name
TH gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35573-2
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35573-2

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) TH 基因
Synonyms: TYH;酪氨酸 3-加一氧酶基因;酪氨酸 3-单加氧酶基因;酪氨酸 3-单氧化酶基因;酪氨酸 3-单氧酶基因;酪氨酸加一氧酶基因;酪氨酸单加氧酶基因;酪氨酸单氧化酶基因;酪氨酸单氧酶基因;酪氨酸羟化酶基因
et-EE Estonian (Estonia) TH geen
es-ES Spanish (Spain) Gen TH
it-IT Italian (Italy) TH, gene
Synonyms: Gene TH
tr-TR Turkish (Turkey) TH geni
ru-RU Russian (Russian Federation) TH ген
nl-NL Dutch (Netherlands) TH-gen
Synonyms: TH gen