Background of the antigen
SHROOM1 is an 852 amino acid protein that contains one ASD1 domain and one ASD2 domain. Localized to both the cytoplasm and the cytoskeleton, SHROOM1 interacts with Actin and is thought to be involved in microtubule assembly during cell elongation, possibly playing a role in the development of the nervous system. Multiple isoforms of SHROOM1 exist due to alternative splicing events. The gene encoding SHROOM1 maps to human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
