Gene: SPEG
Alternate names for this Gene: APEG-1|APEG1|BPEG|CNM5|MYLK6|SPEGalpha|SPEGbeta
Gene 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.
Gene is located in Chromosome: 2
Location in Chromosome : 2q35
Description of this Gene: striated muscle enriched protein kinase
Type of Gene: protein-coding
rs907683 in
SPEG gene and
RESTING HEART RATE
PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.
PMID 29769521 2018 Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system.