| Modification Notes |
SPATA13 (spermatogenesis associated 13), also known as ASEF2, is a 652 amino acid protein that may be involved in the regulation of spermatogenesis. SPATA13 contains a DH (DBL-homology) domain and a PH (pleckstrin-homology) domain, both of which are found in a variety of proteins that are involved in gene expression, membrane trafficking, growth factor signaling or cellular transformation. The gene encoding SPATA13 maps to human chromosome 13, which houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. Trisomy 13, also known as Patau syndrome, is a deadly syndrome associated with chromosome 13. The few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections. |