Literature summary for 2.7.11.19 extracted from

Maichele, A.J.; Burwinkel, B.; Maire, I.; Sovik, O.; Kilimann, M.W.
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans (1996), Nat. Genet., 14, 337-340.

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Protein Variants

Protein Variants	Comment	Organism
additional information	regulatory enzyme of glycogen metabolism, mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit cause autosomal liver glycogenosis. Mutation V106E, G189E and D215N are responsible for autosomal form of Phk deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P15735	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Synonyms

Synonyms	Comment	Organism
phosphorylase B kinase gamma catalytic chain, testis/liver isoform	-	Homo sapiens

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Release 2023.1 (January 2023)