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Description

The NAGS gene (N-acetylglutamate synthase) [HGNC Gene ID:17996] is located on chromosome 17q21.31. The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008] [NCBI Gene ID:162417] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline 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
NAGS gene
Part Display Name
NAGS gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2008-10-01
Construct for LOINC Short Name
NAGS gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71446-6
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Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)NAGS 基因
Synonyms: AGAS;ARGA;MGC133025;1700120E20Rik;AI415708;argA;OTTMUSP00000002248;amino-acid N-acetyltransferase;N-acetylglutamate synthase;氨基酸 N-乙酰转移酶;氨基酸 N-转乙酰酶;氨基酸 N-乙酰基转移酶;N-乙酰谷氨酸合酶;N-乙酰谷氨酸合成酶
et-EEEstonian (Estonia)NAGS geen
es-ESSpanish (Spain)Gen NAGS
it-ITItalian (Italy)NAGS, gene
Synonyms: Gene NAGS
tr-TRTurkish (Turkey)NAGS geni
ru-RURussian (Russian Federation)NAGS ген
nl-NLDutch (Netherlands)NAGS-gen
Synonyms: NAGS gen
fr-FRFrench (France)NAGS gène
pl-PLPolish (Poland)NAGS gen
Synonyms: Gen NAGS
el-GRGreek (Greece)Γονίδιο NAGS
Synonyms: Γονίδιο NAGS