FCH and double SH3 domains 1, FCH and double SH3 domains protein 1, FCHSD 1, FCHSD1, FCSD1_HUMAN, FLJ00007, Nervous wreck homolog 2, NWK 2, NWK2.
FCHSD1 is a 690 amino acid protein that contains one FCH domain and two SH3 domains. FCHSD1 exists as three isoforms as a result of alternative splicing events. The gene encoding FCHSD1 maps to chromosome 5, which is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
