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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

PRKAR1B  -  protein kinase, cAMP-dependent, regulatory...

Homo sapiens

Synonyms: cAMP-dependent protein kinase type I-beta regulatory subunit
 
 
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Disease relevance of PRKAR1B

  • Genomic structure of the human gene for protein kinase A regulatory subunit R1-beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred [1].
 

High impact information on PRKAR1B

  • Mutations in the exons or intron-exon boundaries of PRKAR1B (7p22, closely related to PRKAR1A, which is mutated in Carney complex) have been excluded in this family [2].
  • Previous data from the CEPH database and our present RFLP data were used to construct a six-point local framework map including PRKAR1B and a seven-point framework map including PRKAR2B [3].
  • We sought to determine whether mutations in the exons or intron/exon boundaries in PRKAR1B (encoding protein kinase A regulatory subunit R1-beta), which resides within the linked locus, are associated with FH-II [1].

References

  1. Genomic structure of the human gene for protein kinase A regulatory subunit R1-beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred. Elphinstone, M.S., Gordon, R.D., So, A., Jeske, Y.W., Stratakis, C.A., Stowasser, M. Clin. Endocrinol. (Oxf) (2004) [Pubmed]
  2. Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. So, A., Duffy, D.L., Gordon, R.D., Jeske, Y.W., Lin-Su, K., New, M.I., Stowasser, M. J. Hypertens. (2005) [Pubmed]
  3. Mapping of the regulatory subunits RI beta and RII beta of cAMP-dependent protein kinase genes on human chromosome 7. Solberg, R., Sistonen, P., Träskelin, A.L., Bérubé, D., Simard, J., Krajci, P., Jahnsen, T., de la Chapelle, A. Genomics (1992) [Pubmed]
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