- dys-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans 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).
- Clcn1 [Search on AGR]
Rattus norvegicus Enables voltage-gated chloride channel activity. Involved in chloride transport. Predicted to be located in sarcolemma. Predicted to be part of chloride channel complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in Becker disease; Thomsen disease; and myotonia congenita. Orthologous to human CLCN1 (chloride voltage-gated channel 1); INTERACTS WITH alpha-Zearalanol; ammonium chloride; atorvastatin calcium.
- Sntb1 [Search on AGR]
Homo sapiens Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
- Casq1 [Search on AGR]
Homo sapiens This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]
- Sntb2 [Search on AGR]
Homo sapiens Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
- Clcn1 [Search on AGR]
Homo sapiens The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
- Dmd [Search on AGR]
Homo sapiens This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]