Gene: ABHD12B

Alternate names for this Gene: BEM46L3|C14orf29|c14_5314

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q22.1

Description of this Gene: abhydrolase domain containing 12B

Type of Gene: protein-coding

Gene: PYGL

Alternate names for this Gene: GSD6

Gene Summary: This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 14

Location in Chromosome : 14q22.1

Description of this Gene: glycogen phosphorylase L

Type of Gene: protein-coding