ENO3 gene

enolase 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]

From UniProt:

Appears to have a function in striated muscle development and regeneration.

From NCBI Gene:

  • Glycogen storage disease type 13

From UniProt:

Glycogen storage disease 13 (GSD13): A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis. [MIM:612932]

Cytogenetic Location: 17p13.2, which is the short (p) arm of chromosome 17 at position 13.2

Molecular Location: base pairs 4,949,182 to 4,957,131 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.2, which is the short (p) arm of chromosome 17 at position 13.2
  • GSD13
  • MSE