DISEASES

Disease-gene associations mined from literature

Literature associating DES and autosomal recessive limb-girdle muscular dystrophy type 2W

DES [ENSP00000363071]

Desmin; Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity . In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z- line structures . May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity). ECO:0000269|PubMed:25394388, ECO:0000269|PubMed:26724190,

Synonyms:  DES,  P17661,  Q53SB5,  tmp_locus_29,  P17661p ...

Linkouts:  STRING  Pharos  UniProt  OMIM