This website provides information on patients with mutations in the HSPD1gene, including clinical data, molecular data, management and research options.
The HSPD1 gene encodes the HSP60 protein, a molecular chaperone that promotes folding of proteins to their native functional 3-dimensional structure. The syndrome caused by mutations in the HSPD1gene is characterized by neurological and neurodevelopmental features.
Not all individuals with a mutation in the HSPD1gene have these features.
Peter Bross, PhD, Aarhus University and Aarhus University Hospital, Denmark, peter.bross@clin.au.dk