LP35626-8
SOD1 gene
Active
Description
The SOD1 gene (superoxide dismutase 1, soluble) [HGNC Gene ID:11179] is located on chromosome 21q22.11. The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6647] 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
- SOD1 gene
- Part Display Name
- SOD1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-04-28
- Construct for LOINC Short Name
- SOD1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP35626-8 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP35626-8
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | SOD1 基因 Synonyms: ALS; |
es-ES | Spanish (Spain) | Gen SOD1 |
it-IT | Italian (Italy) | SOD1, gene Synonyms: Gene SOD1 |
et-EE | Estonian (Estonia) | SOD1 geen |
tr-TR | Turkish (Turkey) | SOD1 geni |
ru-RU | Russian (Russian Federation) | SOD1 ген |
nl-NL | Dutch (Netherlands) | SOD1-gen Synonyms: SOD1 gen |
el-GR | Greek (Greece) | Γονίδιο SOD1 Synonyms: Γονίδιο SOD1 |
LOINC Copyright
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