LP63486-2
SGCG gene
Active
Description
The SGCG gene (sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)) [HGNC Gene ID:10809] is located on chromosome 13q12. This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008] [NCBI Gene ID:6445] 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
- SGCG gene
- Part Display Name
- SGCG gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-04-19
- Construct for LOINC Short Name
- SGCG 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) | SGCG 基因 Synonyms: DAGA4; |
| et-EE | Estonian (Estonia) | SGCG geen |
| es-ES | Spanish (Spain) | Gen SGCG |
| it-IT | Italian (Italy) | SGCG, gene Synonyms: Gene SGCG |
| tr-TR | Turkish (Turkey) | SGCG geni |
| ru-RU | Russian (Russian Federation) | SGCG ген |
| nl-NL | Dutch (Netherlands) | SGCG-gen Synonyms: SGCG gen |
| fr-FR | French (France) | SGCG gène |
| pl-PL | Polish (Poland) | SGCG gen Synonyms: Gen SGCG |
| el-GR | Greek (Greece) | Γονίδιο SGCG Synonyms: Γονίδιο SGCG |
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://