PHKG2 Proteine (PHKG2)

Bezeichnung:
phosphorylase Kinase, gamma 2 (Testis) Proteine (PHKG2)
Auf www.antikoerper-online.de finden Sie aktuell 9 phosphorylase Kinase, gamma 2 (Testis) (PHKG2) Proteine von 5 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen PHKG2 Antikörper (81) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 98 PHKG2 Produkte verfügbar.
Synonyme:
1500017I02Rik, GSD9C, MGC145608, PHKG2, zgc:55863
alle Proteine anzeigen Gen GeneID UniProt
PHKG2 5261 P15735
PHKG2 68961 Q9DB30
PHKG2 140671 P31325

Weitere Synonyme anzeigen

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Human phosphorylase Kinase, gamma 2 (Testis) (PHKG2) Interaktionspartner

  1. These cases add to the current knowledge of clinical variability in patients with PHKG2 mutations. Long term studies, involving follow-up of these patients into adulthood, are needed

  2. Patients with PHKG2 mutations have a severe hepatic phenotype within the heterogeneous GSD IX disorder. A defect in PHKG2 should be considered in patients with suspected glycogenosis associated with significant liver fibrosis and cirrhosis.

  3. PHKG2 mutations are associated with Glycogen (zeige GYS1 Proteine) storage disease type IX

PHKG2 Protein Überblick

Protein Überblick

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, encoded by two different genes. 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, and the hepatic isoform is encoded by this gene. 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 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.

Alternative names and synonyms associated with PHKG2

  • phosphorylase kinase, gamma 2 (testis) (PHKG2)
  • phosphorylase kinase, gamma 2 (testis) (phkg2)
  • phosphorylase kinase, gamma 2 (testis) (Phkg2)
  • 1500017I02Rik Protein
  • GSD9C Protein
  • MGC145608 Protein
  • PHKG2 Protein
  • zgc:55863 Protein

Bezeichner auf Proteinebene für PHKG2

phosphorylase kinase, gamma 2 (testis) , phosphorylase b kinase gamma catalytic chain, testis/liver isoform , phosphorylase b kinase gamma catalytic chain, testis/liver isoform-like , phosphorylase b kinase gamma catalytic chain, liver/testis isoform , PHK-gamma-LT , PHK-gamma-T , PSK-C3 , Phosphorylase kinase, gamma 2 (testis/liver) , phosphorylase kinase subunit gamma-2 , serine/threonine-protein kinase PHKG2 , phosphorylase kinase subunit gamma 2

GENE ID SPEZIES
100065274 Equus caballus
741602 Pan troglodytes
779740 Xenopus (Silurana) tropicalis
100012992 Monodelphis domestica
100217403 Ovis aries
100355661 Oryctolagus cuniculus
100455717 Pongo abelii
100478501 Ailuropoda melanoleuca
100588039 Nomascus leucogenys
393937 Danio rerio
496328 Xenopus laevis
5261 Homo sapiens
607275 Canis lupus familiaris
100310801 Sus scrofa
512670 Bos taurus
68961 Mus musculus
140671 Rattus norvegicus
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