Immunoglobulin mu-binding protein 2 (IGHMBP2)

Immunoglobulin mu-binding protein 2 (IGHMBP2) is a member of the superfamily 1 (SF1) of DNA/RNA helicases, characterized by its ability to unwind nucleic acid duplexes using ATP hydrolysis. It is ubiquitously expressed but plays a particularly vital role in the maintenance and survival of alpha-motor neurons in the spinal cord. The protein is involved in several essential cellular processes, including translation regulation, ribosome biogenesis, and RNA processing, often through interactions with tRNA and translation initiation factors. Mutations in the IGHMBP2 gene are the primary cause of Spinal Muscular Atrophy with Respiratory Distress type 1 (SMARD1), a severe, early-onset neurodegenerative disorder, as well as Charcot-Marie-Tooth disease type 2S (CMT2S). Current therapeutic development is centered on gene replacement strategies using adeno-associated virus (AAV) vectors, such as AAV9-IGHMBP2, to deliver a functional copy of the gene to the central nervous system. Clinical trials are currently investigating the safety and efficacy of these gene therapies in affected infants and children.

Other names

SMUBP2CATF1ZFAND7HMN6SMARD1CMT2SGF-1HCSASMBP2DNA-binding protein SMUBP-2Cardiac transcription factor 1Zinc finger, AN1-type domain 7

Gene replacement therapy