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Description

The SGCB gene (sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)) [HGNC Gene ID:10806] is located on chromosome 4q12. This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008] [NCBI Gene ID:6443] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline 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
SGCB gene
Part Display Name
SGCB gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2006-12-12
Construct for LOINC Short Name
SGCB gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP61788-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP61788-3

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)SGCB 基因
Synonyms: 43 kDa dystrophin 相关糖蛋白;43 kDa 肌缩蛋白相关糖蛋白;43 kDa 肌缩蛋白相关糖蛋白（43 kDa dystrophin-associated glycoprotein，43DAG）;43 kDa 肌萎缩蛋白相关糖蛋白;43 kDa 肌营养不良因子相关糖蛋白;43 kDa 肌营养不良蛋白相关糖蛋白;43DAG;A3B;Beta-SG;Beta-肌聚糖;LGMD2E;limb girdle muscular dystrophy 2E (non-linked families)
et-EEEstonian (Estonia)SGCB geen
es-ESSpanish (Spain)Gen SGCB
it-ITItalian (Italy)SGCB, gene
Synonyms: Gene SGCB
tr-TRTurkish (Turkey)SGCB geni
ru-RURussian (Russian Federation)SGCB ген
nl-NLDutch (Netherlands)SGCB-gen
Synonyms: SGCB gen
fr-FRFrench (France)SGCB gène
pl-PLPolish (Poland)SGCB gen
Synonyms: Gen SGCB
el-GRGreek (Greece)Γονίδιο SGCB
Synonyms: Γονίδιο SGCB