SPEG

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]

SPEG Complex Locus

Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.

Biological Process muscle cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process muscle organ developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process negative regulation of cell population proliferationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process protein phosphorylationIEA:InterPro

Isoform 3
Nucleus

Myopathy, centronuclear, 5 (CNM5):
A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy.

May be autophosphorylated.