LP71419-3
DYSF gene
Active
Description
The DYSF gene (dysferlin) [HGNC Gene ID:3097] is located on chromosome 2p13.3. The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008] [NCBI Gene ID:8291] 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
- DYSF gene
- Part Display Name
- DYSF gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- DYSF 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) | DYSF 基因 Synonyms: FER1L1; |
| et-EE | Estonian (Estonia) | DYSF geen |
| es-ES | Spanish (Spain) | Gen DYSF |
| it-IT | Italian (Italy) | DYSF, gene Synonyms: Gene DYSF |
| tr-TR | Turkish (Turkey) | DYSF geni |
| ru-RU | Russian (Russian Federation) | DYSF ген |
| nl-NL | Dutch (Netherlands) | DYSF-gen Synonyms: DYSF gen |
| fr-FR | French (France) | DYSF gène |
| pl-PL | Polish (Poland) | DYSF gen Synonyms: Gen DYSF |
| el-GR | Greek (Greece) | Γονίδιο DYSF Synonyms: Γονίδιο DYSF |
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://