Small EDRK Rich Factor 2 (SERF2)

Spinal muscular atrophy (SMA) has been classified into 3 types based on age of onset and severity. SMA I-III all map to 5q13, and nearly all patients display deletions or gene conversions of the SMN1 gene. Although some correlation has been established between SMN protein levels and disease course, the genetic basis for SMA phenotypic variability is mainly unexplained, and it had been postulated that the loss of an additional modifying factor contributes to the severity of type I SMA. Sequence analysis determined that SERF2 encodes a deduced 59-amino acid that shares 69% amino acid identity with SERF1. SERF2 is a highly charged helix-turn-helix protein with 33% of its residues either lys or arg, suggesting a role in nucleic acid binding.