Phosphorylase Kinase, alpha 2 蛋白 (PHKA2)产品概述

Full name:
Phosphorylase Kinase, alpha 2 蛋白 (PHKA2)
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别名:
6330505C01Rik, D330034O08, GSD9A, Phk, PHKA2, PYK, PYKL, XLG, XLG2
列出全部蛋白 基因 基因ID UniProt
PHKA2 5256 P46019
大鼠 PHKA2 PHKA2 678739  
PHKA2 110094 Q8BWJ3

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Human Phosphorylase Kinase, alpha 2 (PHKA2) interaction partners

  1. Clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having Glycogen (显示 GYS1 蛋白) storage disease (GSD) type IXa; study detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots.

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

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

  4. 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

  5. alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase (显示 AMY 蛋白) activity

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

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

蛋白简介Phosphorylase Kinase, alpha 2 (PHKA2)

蛋白简介

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.

Alternative names and synonyms associated with Phosphorylase Kinase, alpha 2 (PHKA2)

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

Protein level used designations for PHKA2

phosphorylase b kinase regulatory subunit alpha liver isoform , phosphorylase b kinase regulatory subunit alpha, liver isoform , phosphorylase kinase alpha L subunit , phosphorylase kinase alpha-subunit , phosphorylase kinase, alpha 2 (liver) , phosphorylase kinase, alpha 2 (liver) isoform 1 , phosphorylase kinase, alpha 2 (liver) isoform 2 , Phosphorylase b kinase regulatory subunit alpha, liver isoform , Phosphorylase kinase alpha L subunit , phosphorylase b kinase regulatory subunit alpha, liver isoform-like

GENE ID SPECIES
5256 Homo sapiens
418612 Gallus gallus
480857 Canis lupus familiaris
515732 Bos taurus
678739 Rattus norvegicus
694376 Macaca mulatta
100016219 Monodelphis domestica
100051530 Equus caballus
100083592 Ornithorhynchus anatinus
100190898 Oryctolagus cuniculus
100449615 Pongo abelii
100468646 Ailuropoda melanoleuca
110094 Mus musculus
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