Human Gene EPM2A (ENST00000639465.1) Description and Page Index
Description: Dual specificity protein phosphatase. May be involved in the control of glycogen metabolism, particularly in monitoring for and preventing the formation of poorly branched glycogen molecules (polyglucosans). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Forms a complex with NHLRC1/malin and HSP70 and this complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Isoform 2, an inactive phosphatase, could function as a dominant-negative regulator for the phosphatase activity of isoform 1. (from UniProt O95278) Gencode Transcript: ENST00000639465.1 Gencode Gene: ENSG00000112425.16 Transcript (Including UTRs) Position: hg38 chr6:145,625,945-145,686,936 Size: 60,992 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr6:145,627,416-145,686,183 Size: 58,768 Coding Exon Count: 3
