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glycogen storage disease type-IXc (autosomal liver glycogenosis)
Genetics:
- caused by defects in PHKG2 gene
Clinical manifestations:
1) manifestations in infancy
2) hepatomegaly
3) growth retardation
Laboratory:
1) elevated serum ALT, serum AST
2) lipid panel: dyslipidemia
Properties
DEFICIENT-PROTEIN: phosphorylase kinase
COMPARTMENT: cytoplasm
STATE: active state
MOTIF: S/T-phosphate
kinase domain
MOTIF: ATP-binding site
NAME: ATP-binding site
calmodulin binding site
EFFECTOR-BOUND: calmodulin
Database Correlations
OMIM 172471
References
OMIM :accession 605598