Aliases for SPEG Gene
External Ids for SPEG Gene
Previous HGNC Symbols for SPEG Gene
Previous GeneCards Identifiers for SPEG Gene
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]
GeneCards Summary for SPEG Gene
SPEG (Striated Muscle Enriched Protein Kinase) is a Protein Coding gene. Diseases associated with SPEG include Myopathy, Centronuclear, 5 and Myopathy, Centronuclear, 2. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is HMCN1.
UniProtKB/Swiss-Prot Summary for SPEG Gene
Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.