Striated muscle preferentially expressed protein kinase,in the human is encoded by theSPEGgene, a member of the myosin light chain kinase protein family.[5][6][7]SPEG is involved in the development of themuscle cellcytoskeleton,[5]and the expression of this gene has important roles in the development ofskeletal muscles,and their maintenance and function.[7]Mutations are associated withcentronuclear myopathiesa group of congenital disorders where thecell nucleiare abnormally centrally placed.[8]
In the mouse this gene is calledSPEG complex locus.[9]
Expression of this gene is thought to serve as a marker for differentiatedvascular smooth muscle cellswhich may have a role in regulating growth and differentiation of this cell type. The encoded protein is highly similar to the corresponding rat and mouse proteins. Multiple alternatively splicedtranscript variantshave been found for this gene, but the full-length nature of only one variant has been defined.
Mouse Mutant Alleles for Speg
Marker Symbol for Mouse Gene. This symbol is assigned to the genomic locus by theMGI
Example structure of targeted conditional mutant allele for this gene
Molecular structure of Speg region with inserted mutation sequence
These Mutant ES Cells can be studied directly or used to generate mice with this gene knocked out. Study of these mice can shed light on the function of Speg:
Tam JL, Triantaphyllopoulos K, Todd H, et al. (2006). "The human desmin locus: gene organization and LCR-mediated transcriptional control".Genomics.87(6): 733–46.doi:10.1016/j.ygeno.2006.01.009.PMID16545539.
