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. Studies in mouse have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants have been reported for this gene, but the full-length nature of only two variants that encode different protein isoforms has been defined. [provided by RefSeq, Mar 2010]
GeneCards Summary for SPEG Gene
SPEG (SPEG Complex Locus) is a Protein Coding gene. Diseases associated with SPEG include centronuclear myopathy 5 and myopathy, centronuclear, autosomal recessive. 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 MYLK4.
UniProtKB/Swiss-Prot for SPEG Gene
Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.