Title
Kinase Mutations in Human Disease: Interpreting Genotype-phenotype Relationships
Document Type
Article
Publication Date
1-2010
Journal
Nature Reviews Genetics
Volume
11
Issue
1
First Page
60
Last Page
74
URL with Digital Object Identifier
10.1038/nrg2707
Abstract
Protein kinases are one of the largest families of evolutionarily related proteins and comprise one of the most abundant gene families in humans. Here we survey kinase gene mutations from the perspective of human disease phenotypes and further analyse the structural features of mutant kinases, including mutational hotspots. Our evaluation of the genotype-phenotype relationship across 915 human kinase mutations - that underlie 67 single-gene diseases, mainly inherited developmental and metabolic disorders and also certain cancers - enhances our understanding of the role of kinases in development, kinase dysfunction in pathogenesis and kinases as potential targets for therapy.
