PHKA2

GENE INFORMATION

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Gene name

PHKA2 (HGNC Symbol)

Synonyms

PHK, PYK

Description

Phosphorylase kinase, alpha 2 (liver) (HGNC Symbol)

Entrez gene summary

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]

Chromosome

X

Cytoband

p22.13

Chromosome location (bp)

18910418 - 19002716

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000044446 (version 75.37)

Entrez gene

5256

UniProt

P46019 (UniProt - Evidence at protein level)

neXtProt

NX_P46019

Antibodypedia

PHKA2 antibodies
 

PROTEIN VIEW

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PHKA2-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PHKA2-001 ENSP00000369274
ENST00000379942
P46019
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