Viral Details

Viral Backbone

Recombinant AAV

AAV-ITR

AAV2

AAV Serotype

Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids

Promoter

CMV (default), or choose from 30 different ubiquitous or cell specific promoter

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

PBS/5% Glycerol

Gene Details

Species

Human

Gene Symbol

PYGL

Gene Name

glycogen phosphorylase L

Gene ID

5836

Gene Synonyms

GSD6

ORF Size

2544 bp

RefSeq#

BC095850

Gene Description

PYGL 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.

UniGene ID

Hs.282417

HGNC ID

HGNC:9725