RBCC Red Blood Cell Collection

PHKG2_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PHKG2
Protein names and data: PHKG2_HUMAN , Phosphorylase b kinase gamma catalytic chain, liver/testis isoform; PHK-gamma-LT; PHK-gamma-T; 2.7.11.19 , PSK-C3; Phosphorylase kinase subunit gamma-2 Lenght: 406 a.a.
Mass: 46442 Da
fasta formatted sequence
Function: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity).
Catalytic activity: 2 ATP + phosphorylase b = 2 ADP + phosphorylase a.
Disease: ( OMIM: 172471 613027 ) Glycogen storage disease 9C (GSD9C) [MIM:613027]: A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

106 - 106 V -> E (in GSD9C). VAR_009517
157 - 157 E -> K (in GSD9C). VAR_020854
189 - 189 G -> E (in GSD9C). VAR_009518
215 - 215 D -> N (in GSD9C). VAR_020855
247 - 247 E -> G (in dbSNP:rs34006569). VAR_051658 34006569
317 - 317 A -> T. VAR_040996

Database cross-references

UniProt: P15735
Ensembl: ENST00000424889
Ensembl: ENST00000563588
MIM: 172471
MIM: 613027
neXtProt: NX_P15735
Antibodypedia: P15735 (may not find the protein thus also not any antibody)
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