PHKG1


Description

The PHKG1 (phosphorylase kinase catalytic subunit gamma 1) is a protein-coding gene located on chromosome 7.

The PHKG1 gene encodes the catalytic subunit of phosphorylase b kinase (PHK), a crucial enzyme involved in glycogen metabolism. This gene is a member of the Ser/Thr protein kinase family and encodes a protein with a single protein kinase domain and two calmodulin-binding domains. PHKG1 is part of a 16-subunit protein kinase complex, containing four subunits in equimolar ratios. This complex plays a vital role in glycogenolysis by regulating glycogen breakdown. Two pseudogenes of PHKG1 are located on chromosome 7q11.21, and one is found on chromosome 11p11.12.

PHKG1 encodes the catalytic subunit of phosphorylase b kinase (PHK), a key regulator of glycogen breakdown (glycogenolysis). PHK activates glycogen phosphorylase by phosphorylation, enabling the breakdown of glycogen into glucose. In addition to its role in glycogen metabolism, PHKG1 has been shown to phosphorylate other proteins, including PYGM, TNNI3, MAPT/TAU, GAP43, and NRGN/RC3, suggesting broader roles in cellular processes.

PHKG1 is also known as PHKG.

Associated Diseases


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