LP208411-1
ASS1 gene
Active
Description
The ASS1 gene (argininosuccinate synthase 1) [HGNC Gene ID:758] is located on chromosome 9q34.1. The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] [NCBI Gene ID:445] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- ASS1 gene
- Part Display Name
- ASS1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- ASS1
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ASS1 基因 Synonyms: 精氨基琥珀酸合酶 1; |
| es-ES | Spanish (Spain) | Gen ASS1 |
| it-IT | Italian (Italy) | ASS1, gene Synonyms: Gene ASS1 |
| nl-NL | Dutch (Netherlands) | ASS1-gen Synonyms: ASS1 gen |
| fr-FR | French (France) | ASS1 gène |
| pl-PL | Polish (Poland) | ASS1 gen Synonyms: Gen ASS1 |
| el-GR | Greek (Greece) | Γονίδιο ASS1 Synonyms: Γονίδιο ASS1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://