Gene: PFN1

Alternate names for this Gene: ALS18

Gene Summary: This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: profilin 1

Type of Gene: protein-coding

Gene: ENO3

Alternate names for this Gene: GSD13|MSE

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: enolase 3

Type of Gene: protein-coding