Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
IGHMBP2
Immunoglobulin mu binding protein 2




11q13.2-q13.4
* Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.75)
* Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.75)