The IGHMBP2 gene encodes a protein that is part of the DEXDc superfamily of DNA/RNA helicases. The protein functions as a transcription regulator and may also be involved in translation. Defective IGHMBP2 leads to motor neuron vulnerability.
The IGHMBP2 gene has been associated with Spinal Muscular Atrophy with Respiratory Distress 1 (SMARD1).