1 Parent Features
DB identifier | Type | Name |
---|---|---|
IPR011613 | Family | Glycoside hydrolase family 15/Phosphorylase b kinase regulatory chain family |
Type: | Family | Name: | Phosphorylase kinase alpha/beta subunit |
Description: | This family consists of several eukaryotic phosphorylase kinase alpha and beta subunits. Phosphorylase kinase (PHK) is a regulatory enzyme in glycogen metabolism. Mutations in the gene encoding the alpha subunit of PHK (PHKA2) have been shown to be responsible for X-linked liver glycogenosis (XLG). XLG, a frequent type of glycogen storage disease, is characterised by hepatomegaly and growth retardation [, ]. | Short Name: | PHK_A/B_su |
DB identifier | Type | Name |
---|---|---|
IPR011613 | Family | Glycoside hydrolase family 15/Phosphorylase b kinase regulatory chain family |