PYGL
phosphorylase, glycogen, liver
Sinónimos:
GSD6
Especie:
Human PYGL (5836), Mouse Pygl (110095), Rat Pygl (64035), domestic guinea pig Pygl (100721433), naked mole-rat Pygl (101723998), cow PYGL (505472), sheep PYGL (554320), Zebrafish pygl (493916), chicken PYGL (378909), domestic cat PYGL (101089364) ...Más
ID UniProtKB:
ID del gen:
- Human(5836) 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.[provided by RefSeq, Feb 2011]
- Mouse(110095) liver glycogen phosphorylase
- Rat(64035) phosphorylase, glycogen, liver
- domestic guinea pig(100721433) phosphorylase, glycogen, liver
- naked mole-rat(101723998) phosphorylase, glycogen, liver
- cow(505472) phosphorylase, glycogen, liver
- sheep(554320) phosphorylase, glycogen, liver
- Zebrafish(493916) phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)
- chicken(378909) phosphorylase, glycogen, liver
- domestic cat(101089364) phosphorylase, glycogen, liver
- Horse(100066726) phosphorylase, glycogen, liver
- dog(403738) phosphorylase, glycogen, liver
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