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Did You Know. . ?
that the DES gene encodes desmin, a
muscle-specific cytoskeletal protein found in smooth, cardiac, and heart
muscles? Desmin belongs to the type III family of intermediate filaments (IFs), a class of cytoskeletal elements. See MIM: 125660 Desmin; DES
that defects in DES are the cause of desmin-related cardioskeletal myopathy (CSM)? aka desmin-related myopathy (DRM)? See MIM: 601419 Myopathy, Myofibrillar, Desmin-Related
that defects in DES are the cause of neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome), an adult-onset, autosomal dominant disorder appearing in the third-fourth decade (later in women)? See MIM: 181400 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
that a unique form of dilated
cardiomyopathy, characterized by dilation and contractile dysfunction of
the left and right ventricles that is not due to high blood pressure
(hypertension) or ischemic heart disease, results from mutations in DES? See MIM: 604765 Cardiomyopathy, Dilated, II CMDII
that mutations in the gene for αB-crystallin, a chaperone of the sHsp (small shock protein)
group that assists DES to function properly under normal circumstances
can also cause fragility of the myofibrils (structures in muscles that
help them contract)? See MIM: +123590 Crystallin, Alpha-B; Cryab
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The "Did You Know..." entries above are derived from the Online Mendelian Inheritance in Man (OMIM) database, a continuously updated catalog of human genes and genetic disorders as authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. at the U.S. National Institutes of Health.