Name
|
calsequestrin 1 | Cytological Location | 1q23.2 |
| Brief Description | calsequestrin 1 |
| Description | 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] |
Gene --> GO terms.
Gene -> HPO annotation (Human Phenotype Ontology)
Mouse Gene --> Allele [Phenotype]
Gene --> Chromosomal location.
Gene --> GO terms.
Gene --> Overlapping genes.
Gene (Hum OR Rat) --> Mouse Allele (Phenotype)
Gene --> Alleles and Disease (clinVar data)
Gene -> HPO annotation (Human Phenotype Ontology)
Mouse Gene --> Allele [Phenotype]
