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Human Polyclonal PHKG1 Primary Antibody for WB - ABIN2801903
Wehner, Kilimann: Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1). in Human genetics 1996
Show all 3 Pubmed References
Deep sequencing of PHKG1 revealed a point mutation (C>A) in a splice acceptor site of intron 9, resulting in a 32-bp deletion in the open reading frame and generating a premature stop codon.
This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene.
Phosphorylase B kinase gamma catalytic chain, skeletal muscle isoform (Phosphorylase kinase gamma subunit 1)
, phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform
, phosphorylase kinase subunit gamma-1
, serine/threonine-protein kinase PHKG1
, gamma phosphorylase kinase
, phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform
, phosphorylase kinase subunit gamma 1
, phosphorylase kinase gamma
, phosphorylase kinase gamma 1