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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SPEG, APEG-1, APEG1, BPEG, SPEGalpha, SPEGbeta, CNM5, SPEG complex locus, MYLK6, striated muscle enriched protein kinase | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM:615950;MGI:109282;HomoloGene:55619;GeneCards:SPEG;OMA:SPEG - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Striated muscle preferentially expressed protein kinase, in the human is encoded by theSPEG gene, a member of themyosin 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 myopathies a group of congenital disorders where thecell nuclei are 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 cells which 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 variants have been found for this gene, but the full-length nature of only one variant has been defined.
| Mouse Mutant Alleles for Speg | ||
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| Marker Symbol for Mouse Gene. This symbol is assigned to the genomic locus by theMGI | Speg | |
| Mutant Mouse Embryonic Stem Cell Clones. These are the known targeted mutations for this gene in a mouse. | Spegtm1a(KOMP)Wtsi | |
| Example structure of targeted conditional mutant allele for this gene | ||
Wtsi.jpg) | ||
| 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: | ||
