SPEG wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SPEG wild-type allele is located in the vicinity of 2q35 and is approximately 59 kb in length. This allele, which encodes striated muscle preferentially expressed protein kinase protein, plays a role in serine/threonine phosphorylation and muscle cell development. Mutation of the gene is associated with centronuclear myopathy 5.

**Synonyms:** - APEG-1 - APEG1 - Aortic Preferentially Expressed Gene 1 - BPEG - CNM5 - KIAA1297 - MGC12676 - MYLK6 - Nuclear Protein, Marker for Differentiated Aortic Smooth Muscle and Down-Regulated with Vascular Injury Gene - SPEG Complex Locus Gene - SPEGalpha - SPEGbeta - Striated Muscle Enriched Protein Kinase wt Allele