LP61779-2
GFAP gene
Active
Description
The GFAP gene (glial fibrillary acidic protein) [HGNC Gene ID:4235] is located on chromosome 17q21. This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2670] 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
- GFAP gene
- Part Display Name
- GFAP gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-12-12
- Construct for LOINC Short Name
- GFAP gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GFAP 基因 Synonyms: FLJ45472; |
| et-EE | Estonian (Estonia) | GFAP geen |
| es-ES | Spanish (Spain) | Gen GFAP |
| it-IT | Italian (Italy) | GFAP, gene Synonyms: Gene GFAP |
| tr-TR | Turkish (Turkey) | GFAP geni |
| ru-RU | Russian (Russian Federation) | GFAP ген |
| nl-NL | Dutch (Netherlands) | GFAP-gen Synonyms: GFAP gen |
| fr-FR | French (France) | GFAP gène |
| pl-PL | Polish (Poland) | GFAP gen Synonyms: Gen GFAP |
| el-GR | Greek (Greece) | Γονίδιο GFAP Synonyms: Γονίδιο GFAP |
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://