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phosphorylase Kinase, alpha 2 (Liver) (PHKA2) ELISA Kits

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. Additionally we are shipping phosphorylase Kinase, alpha 2 (Liver) Antibodies (23) and phosphorylase Kinase, alpha 2 (Liver) Proteins (5) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Mouse PHKA2 PHKA2 110094 Q8BWJ3
Anti-Human PHKA2 PHKA2 5256 P46019
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More ELISA Kits for phosphorylase Kinase, alpha 2 (Liver) Interaction Partners

Human phosphorylase Kinase, alpha 2 (Liver) (PHKA2) interaction partners

  1. In this study we summarized the PHKA2 mutation spectrum in Korean glycogen (show GYS1 ELISA Kits) storage disease type IX patients and found that the most common mutation type was gross deletion.

  2. The present case also represents the first known reported case of liver PhK deficiency with an PHKA2 mutation and liver cirrhosis.

  3. We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect

  4. alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase (show AMY ELISA Kits) activity

  5. Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 is associated with X-linked liver glycogenosis

  6. Results show that phosphorylase kinase (PhK) alpha subunit (show PHKA1 ELISA Kits) missense mutations or small in-frame deletions/insertions may have a direct impact on the PhK alpha (show PHKA1 ELISA Kits) functions.

phosphorylase Kinase, alpha 2 (Liver) (PHKA2) Antigen Profile

Antigen 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.

Gene names and symbols associated with PHKA2

  • phosphorylase kinase alpha 2 (Phka2) antibody
  • phosphorylase kinase, alpha 2 (liver) (PHKA2) antibody
  • 6330505C01Rik antibody
  • D330034O08 antibody
  • GSD9A antibody
  • PHK antibody
  • PYK antibody
  • PYKL antibody
  • XLG antibody
  • XLG2 antibody

Protein level used designations for PHKA2

phosphorylase b kinase regulatory subunit alpha, liver isoform , phosphorylase kinase alpha L subunit , phosphorylase b kinase regulatory subunit alpha liver isoform , phosphorylase kinase alpha-subunit , Phosphorylase kinase alpha L subunit

110094 Mus musculus
5256 Homo sapiens
100190898 Oryctolagus cuniculus
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