LP71422-7
FLNA gene
Active
Description
The FLNA gene (filamin A, alpha) [HGNC Gene ID:3754] is located on chromosome Xq28. The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] [NCBI Gene ID:2316] 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
- FLNA gene
- Part Display Name
- FLNA gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- FLNA 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) | FLNA 基因 Synonyms: ABP-280; |
| et-EE | Estonian (Estonia) | FLNA geen |
| es-ES | Spanish (Spain) | Gen FLNA |
| it-IT | Italian (Italy) | FLNA, gene Synonyms: Gene FLNA |
| tr-TR | Turkish (Turkey) | FLNA geni |
| ru-RU | Russian (Russian Federation) | FLNA ген |
| nl-NL | Dutch (Netherlands) | FLNA-gen Synonyms: FLNA gen |
| fr-FR | French (France) | FLNA gène |
| pl-PL | Polish (Poland) | FLNA gen Synonyms: Gen FLNA |
| el-GR | Greek (Greece) | Γονίδιο FLNA Synonyms: Γονίδιο FLNA |
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://