SPEG
Description
The SPEG (striated muscle enriched protein kinase) is a protein-coding gene located on chromosome 2.
The SPEG gene encodes a striated muscle preferentially expressed protein kinase, a member of the myosin light chain kinase protein family. It is involved in the development of the muscle cell cytoskeleton and plays important roles in the development, maintenance, and function of skeletal muscles. Mutations in the SPEG gene are associated with centronuclear myopathies, a group of congenital disorders characterized by abnormally centrally placed cell nuclei. The gene's expression is thought to serve as a marker for differentiated vascular smooth muscle cells and may play a role in regulating the growth and differentiation of this cell type. The encoded protein is highly similar to its corresponding rat and mouse counterparts. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of only one variant has been defined.
Isoform 3 of the SPEG protein may play a role in regulating the growth and differentiation of arterial smooth muscle cells.
SPEG is also known as APEG-1, APEG1, BPEG, CNM5, MYLK6, SPEGalpha, SPEGbeta.
