Predicted to enable actin binding activity and zinc ion binding activity. Involved in several processes, including forward locomotion; muscle cell cellular homeostasis; and sarcomere organization. Located in striated muscle dense body. Part of dystrobrevin complex. Expressed in body wall musculature; head muscle; pharyngeal muscle cell; and vulval muscle. Used to study Duchenne muscular dystrophy. Human ortholog(s) of this gene implicated in several diseases, including Becker muscular dystrophy; Duchenne muscular dystrophy; cognitive disorder; dilated cardiomyopathy (multiple); and ovarian cancer. Is an ortholog of human DMD (dystrophin) and UTRN (utrophin).
Inferred by orthology to human genes with DO annotation (HGNC:2928)
Disease_relevance
Mutations in human dystrophin are associated with the Duchenne and Becker types of muscular dystrophy, that affect skeletal muscles used for movement, and heart (cardiac) muscle; in C. elegans, loss-of-function mutants in dys-1 (cx18,cx26,cx35,cx40), the ortholog of human dystrophin/utrophin, display locomotion defects like hyperactivity and hypercontraction, and are hypersensitive to acetylcholine and to the acetylcholinesterase inhibitor, aldicarb, suggesting that dys-1 plays a role in the muscle response to acetylcholine; a chimeric transgene in which the C-terminal end of the elegans DYS-1 protein is replaced by the human dystrophin sequence is able to partly suppress the phenotype of the dys-1 mutants; however, the genetic model for progressive myopathy in C. elegans consists of the dys-1 mutation combined with a mutation in hlh-1, the MyoD ortholog (dys-1(cx18);hlh-1(cc561ts), these animals display time-dependent muscle degeneration; use of this model has identified several genes, that play a role in muscle degeneration, eg., dyc-1/nitric oxide synthase (nNOS)-binding protein CAPON.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.
CGC_data_submission
[210510 skd] Modified Map position as it was a reverse physical that could not be fixed by automated methods. (9.05343)