LP33158-4
TTR gene
Active
Descriptions
Detects sequence variations in the Transthyretin gene used in detection of Familial Amyloid Cardiomyopathy and Familial Amyloid Polyneuropathy. Source: Regenstrief Institute
The TTR gene (transthyretin) [HGNC Gene ID:12405] is located on chromosome 18q12.1. This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009] [NCBI Gene ID:7276] 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
- TTR gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-11
- Construct for LOINC Short Name
- TTR gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP33158-4
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | TTR 基因 Synonyms: PALB; |
| et-EE | Estonian (Estonia) | TTR geen |
| es-ES | Spanish (Spain) | Gen TTR |
| it-IT | Italian (Italy) | TTR, gene Synonyms: Gene TTR |
| tr-TR | Turkish (Turkey) | TTR geni |
| ru-RU | Russian (Russian Federation) | TTR ген |
| nl-NL | Dutch (Netherlands) | TTR-gen Synonyms: TTR gen |
LOINC Copyright
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