LP40293-0
SGCA gene
Active
Description
The SGCA gene (sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)) [HGNC Gene ID:10805] is located on chromosome 17q21. This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] [NCBI Gene ID:6442] 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
- SGCA gene
- Part Display Name
- SGCA gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-06-20
- Construct for LOINC Short Name
- SGCA 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) | SGCA 基因 Synonyms: 50DAG; |
| et-EE | Estonian (Estonia) | SGCA geen |
| es-ES | Spanish (Spain) | Gen SGCA |
| it-IT | Italian (Italy) | SGCA, gene Synonyms: Gene SGCA |
| tr-TR | Turkish (Turkey) | SGCA geni |
| ru-RU | Russian (Russian Federation) | SGCA ген |
| nl-NL | Dutch (Netherlands) | SGCA-gen Synonyms: SGCA gen |
| fr-FR | French (France) | SGCA gène |
| pl-PL | Polish (Poland) | SGCA gen Synonyms: Gen SGCA |
| el-GR | Greek (Greece) | Γονίδιο SGCA Synonyms: Γονίδιο SGCA |
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://