Daisy's Doula Job

<p><a href="https://molecular-casenet.rcsb.org/node/63">Daisy's Doula Job</a></p> <p><em>Overview:</em> This case study explores the molecular basis of microcephaly in a genetically rare condition called Microcephaly-Capillary Malformation Syndrome. With only 18 documented cases worldwide, this disorder is diagnosed by genetic testing. The case starts with a doula who encounters a client with a newborn diagnosed with this disorder. Driven by a desire to support the family, Daisy-the doula delves into the structural investigation, to understand how this syndrome results in smaller head sizes and the occurrence of seizures.</p> <p><em>Molecules explored</em>: The primary molecule studied in this case is a deubiquitinating enzyme called STAM-binding protein (STAMBP), also known as AMSH (associated molecule with the Src homology 3 domain of signal transducing adaptor molecule.) The catalytic domain of human AMSH and yeast STAMBP (referred as Sst2) is explored. </p>