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PHKA2 phosphorylase kinase, alpha 2 (liver) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000292 Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol PHKA2
Entrez Gene ID 5256
Full Name phosphorylase kinase, alpha 2 (liver)
Synonyms GSD9A, MGC133071, PHK, PYK, PYKL, XLG, XLG2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp22.2-p22.1

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].
Disorder

MIM: 300798

Glycogen storage disease, type IXa1, 306000 (3); Glycogen storage

mRNA Protein Product Sequence Price Select
NM_000292, 169790834 NP_000283, 4505781 phosphorylase b kinase regulatory subunit alpha, liver isoform ORF Sequence $1500.00
KEGG
hsa04910Insulin signaling pathway
hsa04020Calcium signaling pathway
WikiPathways
WP500Glycogen Metabolism
Reactome
REACT_111217Metabolism
REACT_723Glucose metabolism
REACT_474Metabolism of carbohydrates
REACT_1008Glycogen breakdown (glycogenolysis)
Homo sapiens (human)PHKA2NP_000283.1
Pan troglodytes (chimpanzee)PHKA2XP_003317431.1
Macaca mulatta (Rhesus monkey)PHKA2XP_001084454.1
Canis lupus familiaris (dog)PHKA2XP_537974.2
Bos taurus (cattle)PHKA2NP_001178474.1
Mus musculus (house mouse)Phka2NP_766371.1
Rattus norvegicus (Norway rat)Phka2XP_001053483.1
Gallus gallus (chicken)PHKA2XP_416811.3
Danio rerio (zebrafish)LOC556199XP_684044.3
Drosophila melanogaster (fruit fly)CG7766NP_001138179.1
Caenorhabditis elegansC14B9.8NP_498777.2
GeneCards PHKA2
UniProt P46019
MIM 300798
Ensembl ENSG00000044446
HGNC 8926
HPRD 02380

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
phosphorylase b kinase regulatory subunit alpha, liver isoform
Names
phosphorylase b kinase regulatory subunit alpha, liver isoform
phosphorylase kinase alpha-subunit
phosphorylase kinase alpha L subunit
phosphorylase b kinase regulatory subunit alpha liver isoform
NP_000283.1

Interactant



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