人 PYGL (NM_002863) cDNA克隆

Accession: NM_002863
基因名称: PYGL
基因别名: GSD6
基因描述: Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.
种属: Human
CDS区长度: 2544 (查看编码区序列)
翻译后氨基酸长度: 847 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
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G122507 人 PYGL (NM_002863) cDNA克隆 pDONR223 2ug质粒 点击询价

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]