The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Links

 

Gene Review

PHKB  -  phosphorylase kinase, beta

Homo sapiens

 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of PHKB

 

High impact information on PHKB

  • Several different autosomally inherited forms of PHK deficiency for which the PHKB could be a candidate gene have been described in humans and rats [2].
  • Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13 [2].
  • In contrast, the beta subunit gene (PHKB) was found to be autosomal and was mapped to chromosome 16, region q12-q13 on the proximal long arm [2].
  • Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB) [3].
  • Although these severe translation-disrupting mutations occur in constitutively expressed sequences of the only known beta subunit gene of phosphorylase kinase, PHKB, they are associated with a surprisingly mild clinical phenotype, affecting virtually only the liver, and relatively high residual enzyme activity of approximately 10% [3].
 

Biological context of PHKB

 

Anatomical context of PHKB

 

Analytical, diagnostic and therapeutic context of PHKB

  • To identify such mutations, the complete PHKB coding sequence was amplified by RT-PCR of RNA isolated from blood samples of patients and analyzed by direct sequencing of PCR products [3].
  • The chromosomal locations of the rabbit genes for the alpha and beta subunits of phosphorylase kinase (PHKA and PHKB) were determined by in situ hybridization using rabbit cDNA probes [6].

References

  1. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M.W. Hum. Mol. Genet. (1998) [Pubmed]
  2. Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Francke, U., Darras, B.T., Zander, N.F., Kilimann, M.W. Am. J. Hum. Genet. (1989) [Pubmed]
  3. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Burwinkel, B., Maichele, A.J., Aagenaes, O., Bakker, H.D., Lerner, A., Shin, Y.S., Strachan, J.A., Kilimann, M.W. Hum. Mol. Genet. (1997) [Pubmed]
  4. Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB). Wüllrich-Schmoll, A., Kilimann, M.W. Eur. J. Biochem. (1996) [Pubmed]
  5. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). Burwinkel, B., Moses, S.W., Kilimann, M.W. Hum. Genet. (1997) [Pubmed]
  6. Assignment of the rabbit genes for alpha (PHKA) and beta (PHKB) phosphorylase kinase subunits. Debecker, A., Martin-DeLeon, P.A. Cytogenet. Cell Genet. (1992) [Pubmed]
 
WikiGenes - Universities