LP36765-3
ALS4 gene
Active
Description
The ALS4 gene (senataxin) gene is located on chromosome 9q34.13. This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008] [NCBI Gene ID:23064] 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
- ALS4 gene
- Part Display Name
- ALS4 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-03-14
- Construct for LOINC Short Name
- ALS4 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) | ALS4 基因 Synonyms: AOA2; |
| et-EE | Estonian (Estonia) | ALS4 geen |
| es-ES | Spanish (Spain) | Gen ALS4 |
| it-IT | Italian (Italy) | ASL4, gene Synonyms: Gene ASL4 |
| tr-TR | Turkish (Turkey) | ALS4 geni |
| ru-RU | Russian (Russian Federation) | ALS4 ген |
| nl-NL | Dutch (Netherlands) | ALS4-gen Synonyms: ALS4 gen |
| fr-FR | French (France) | ALS4 gène |
| pl-PL | Polish (Poland) | ALS4 gen Synonyms: Gen ALS4 |
| el-GR | Greek (Greece) | Γονίδιο ALS4 Synonyms: Γονίδιο ALS4 |
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://