Target intelligence / Profile preview

Phosphorylase b kinase regulatory subunit beta (PHKB)

Target
PHKB
Molecular classification
Enzyme (regulatory subunit), Protein kinase regulatory subunit
01

Overview

Phosphorylase b kinase regulatory subunit beta (PHKB) is one of four major subunits (alpha, beta, gamma, delta) forming the phosphorylase b kinase holoenzyme, responsible for activating glycogen phosphorylase by phosphorylation. The beta subunit primarily regulates the enzyme's activity via phosphorylation and is present in both muscle and liver isoforms. Deficiency or mutation of the PHKB gene impairs glycogen breakdown, leading to glycogen accumulation, glucose shortage, and associated clinical syndromes, most notably glycogen storage disease type IXb.

Other names
phosphorylase kinase beta subunitphosphorylase kinase beta-subunitphosphorylase kinase subunit betaphosphorylase kinase, betaKPBB_HUMANPhosphorylase kinase regulatory subunit betaPHKB
02

Biological functions

Regulation of glycogen metabolismAllosteric regulation of phosphorylase b kinase activityModulation of cellular energy supply (glycogenolysis)Phosphorylation of substrate proteins
03

Disease associations

Glycogen storage disease type IXb (GSD IXb)Phosphorylase kinase deficiency (liver and muscle subtypes)Other possible metabolic disorders due to impaired glycogenolysis
04

Safety considerations

Mutations in PHKB can cause metabolic abnormalities, notably hypoglycemia, hepatomegaly, and muscle weakness in glycogen storage disease IXb
05

Biomarkers

Genetic variants or mutations in PHKB may be used as biomarkers for diagnosis of GSD IXb or phosphorylase kinase deficiency

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