Gene Symbol | SPEG |
Entrez Gene ID | 10290 |
Full Name | SPEG complex locus |
Synonyms | APEG-1,APEG1,BPEG,CNM5,SPEGalpha,SPEGbeta |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]. |
Disorder MIM: | |
Disorder Html: | Centronuclear myopathy 5, 615959 (3) |