This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the HSPD1 gene.
Mutations in the HSPD1 gene are associated with neurological and neurodevelopmental disorders. Only one amino acid polymorphism with a frequency of 1-2% in human populations has been found confirming that missense variations that impair HSP60 function or stability are not compatible with survival of an organism. Yet, many rare missense variations have been recorded and a small subset of these – inherited variants and de novo mutations - have been associated with disease phenotypes.
HSPD1