4 research outputs found
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)
Two polymorphic dinucleotide repeats in the rat dystrophin gene, including the conserved 3? UTR repeat
The γ phosphorylase kinase gene, Phkg , maps to mouse Chromosome 5 near Gus
Phosphorylase kinase is a multimeric regulatory enzyme in the glycogenolytic pathway. Interest in various types of phosphorylase kinase enzyme deficiency has focused attention on cloning and mapping the enzyme subunits. We report the mapping of the catalytic γ subunit gene, Phkg , to mouse Chromosome (Chr) 5 near β-glucuronidase ( Gus ), between alpha fetoprotein ( Afp ) and erythropoietin ( Epo ). In addition, PCR-based polymorphism assays have been developed for the human (EPO) and mouse erythropoietin genes, and a unique recombinant inbred strain distribution pattern has been defined for Epo , a distal anchor marker on mouse Chr 5.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47007/1/335_2004_Article_BF00360562.pd