PYGL Chromosome 14
Glycogen phosphorylase L
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What This Gene Does
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]
Gene Info
Gene Group
Glycogen phosphorylases
Locus Type
gene with protein product
Location
14q22.1
Ensembl
ENSG00000100504
Associated Conditions (11)
Glycogen storage disease
type VI
PYGL-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Uveal melanoma
Familial cancer of breast
Key Variants
RS113993980
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, Glycogen storage disease
Health Risk
RS138364932
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, PYGL-related disorder
Health Risk
RS138483823
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, Inborn genetic diseases
Health Risk
RS139338050
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, Glycogen storage disease
Health Risk
RS140296036
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, Glycogen storage disease
Health Risk
RS141992300
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, Glycogen storage disease
Health Risk
RS142483613
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, PYGL-related disorder
Health Risk
RS143759519
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, PYGL-related disorder
Health Risk
RS144989341
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, Inborn genetic diseases
Health Risk
RS148378112
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, Inborn genetic diseases
Health Risk
RS150483902
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, Glycogen storage disease
Health Risk
RS17721570
Conflicting classifications of pathogenicity
Glycogen storage disease, type VI, PYGL-related disorder
Health Risk
All Variants (85)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113993973 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS113993974 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS113993975 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS113993976 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS113993977 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS113993978 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS113993981 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Thyroid cancer |
| RS113993982 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Uterine corpus endometrial carcinoma |
| RS1170047320 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS1243388778 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS1375868904 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS1469198620 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS1555328280 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS1596047883 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS2050491591 | Health Risk | Pathogenic | — |
| RS2050602182 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS2050731690 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS2142795190 | Health Risk | Pathogenic | — |
| RS2502448999 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS2503489724 | Health Risk | Pathogenic | Glycogen storage disease, type VI, PYGL-related disorder |
| RS2503498157 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS2503512754 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS529502292 | Health Risk | Pathogenic | — |
| RS750567664 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS758943884 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS760187622 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS760913598 | Health Risk | Pathogenic | — |
| RS765425704 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Familial cancer of breast |
| RS774646420 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS786204785 | Health Risk | Pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS113993979 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS149096315 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS150547274 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS539898848 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |
| RS776545903 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VI, Glycogen storage disease |