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Muscle Membrane Proteins

Autosomal DominantMuscular DystrophyOMIM 600119
W
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musdist/dag2.htm#Muscle Membrane Proteins

Overview

From WUSTL Neuromuscular

Dystrophin-Associated muscle membrane proteins β-Dystroglycan Sarcoglycans Sarcospan Sarcoglycans 9 Sarcoglycan proteins: Types α-Sarcoglycan (Adhalin) : LGMD R3 (2D) β-Sarcoglycan : LGMD R4 (2E) γ-Sarcoglycan : LGMD R5 (2C) δ-Sarcoglycan : LGMD R6 (2F) ε-Sarcoglycan : Myoclonus-Dystonia syndrome ζ-Sarcoglycan 4 : Structurally related to γ and δ General features Family: Homologous transmembrane proteins with single membrane spanning domain All Sarcoglycans (SG) have Glycosylation Extracellular region Contains cysteine cluster Location N-terminal (Type I): α- & ε-SG C-terminal (Type II): β-, γ-

OMIM Entries

OMIM #600119OMIM #600900OMIM #253700OMIM #601411OMIM #604149OMIM #608113OMIM #601599OMIM #601296OMIM #189980OMIM #604270OMIM #212780OMIM #614305OMIM #164870OMIM #190151OMIM #600543OMIM #610298OMIM #605852OMIM #601047OMIM #600536

Related Conditions

Shared genes
Antibodies vs Receptors & Channels
MVIICACHR
Hyperthyroidism
ACHR
Isaac's Syndrome
ACHRRIADRB1

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.