LP36761-2
ACTA1 gene
Active
Description
The ACTA1 gene (actin, alpha 1, skeletal muscle) [HGNC Gene ID:129] is located on chromosome 1q42.13. The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008] [NCBI Gene ID:58] 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
- ACTA1 gene
- Part Display Name
- ACTA1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-03-14
- Construct for LOINC Short Name
- ACTA1 gene
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) | ACTA1 基因 Synonyms: ACTA; |
| et-EE | Estonian (Estonia) | ACTA1 geen |
| es-ES | Spanish (Spain) | Gen ACTA1 |
| it-IT | Italian (Italy) | ACTA1, gene Synonyms: Gene ACTA1 |
| tr-TR | Turkish (Turkey) | ACTA1 E1770geni |
| ru-RU | Russian (Russian Federation) | ACTA1 ген |
| nl-NL | Dutch (Netherlands) | ACTA1-gen Synonyms: ACTA1 gen |
| fr-FR | French (France) | ACTA1 gène |
| pl-PL | Polish (Poland) | ACTA1 gen Synonyms: Gen ACTA1 |
| el-GR | Greek (Greece) | Γονίδιο ACTA1 Synonyms: Γονίδιο ACTA1 |
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://