LP188513-8
TAT gene
Active
Description
The TAT gene (tyrosine aminotransferase) [HGNC Gene ID:11573] is located on chromosome 16q22.1. This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible mental retardation. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6898] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- TAT gene
- Part Display Name
- TAT gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-01-05
- Construct for LOINC Short Name
- TAT
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP188513-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | TAT 基因 Synonyms: 酪氨酸氨基移换酶; |
| it-IT | Italian (Italy) | TAT, gene Synonyms: Gene TAT |
| tr-TR | Turkish (Turkey) | TAT geni |
| es-ES | Spanish (Spain) | Gen TAT |
| nl-NL | Dutch (Netherlands) | TAT-gen Synonyms: TAT gen |
| el-GR | Greek (Greece) | Γονίδιο TAT Synonyms: Γονίδιο TAT |
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