PHKB Chromosome 16
Phosphorylase kinase regulatory subunit beta
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What This Gene Does
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Phosphorylase kinase subunits
Locus Type
gene with protein product
Location
16q12.1
Ensembl
ENSG00000102893
Associated Conditions (15)
Glycogen storage disease IXb
PHKB-related disorder
Uterine corpus endometrial carcinoma
Lung cancer
Malignant tumor of esophagus
Familial cancer of breast
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Melanoma
Inborn genetic diseases
Mitochondrial disease
Glycogen phosphorylase kinase deficiency
See cases
Key Variants
RS111970242
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS1131063
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS117218785
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, PHKB-related disorder, Uterine corpus endometrial carcinoma
Health Risk
RS121918022
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS1248967430
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS1273669177
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS137869198
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS139431568
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS139738333
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
Health Risk
RS140636792
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
Health Risk
RS142381554
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
Health Risk
RS144211929
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756592483 | Health Risk | Pathogenic | PHKB-related disorder, PHKB-related disorder |
| RS758004953 | Health Risk | Pathogenic | Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS763501714 | Health Risk | Pathogenic | Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency |
| RS764133797 | Health Risk | Pathogenic | PHKB-related disorder, Glycogen storage disease IXb, PHKB-related disorder |
| RS765849667 | Health Risk | Pathogenic | Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS766592623 | Health Risk | Pathogenic | Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS769640225 | Health Risk | Pathogenic | Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS774068671 | Health Risk | Pathogenic | Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS781603142 | Health Risk | Pathogenic | Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS1322527832 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS145166656 | Health Risk | Pathogenic/Likely pathogenic | Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency |
| RS149244943 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency, PHKB-related disorder |
| RS2151651792 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS371296953 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb |
| RS535749057 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXb, PHKB-related disorder, Glycogen phosphorylase kinase deficiency |
| RS748262135 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS761645932 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb |
| RS768885733 | Health Risk | Pathogenic/Likely pathogenic | Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency |
| RS797044442 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb |
| RS964263812 | Health Risk | Pathogenic/Likely pathogenic | See cases, Glycogen storage disease IXb, See cases |