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Symbol IGHMBP2 contributors: mct/npt/shn - updated : 30-12-2010
HGNC name immunoglobulin mu binding protein 2
HGNC id 5542
corresponding disease(s) SMARD1 , CMT2S
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   inversion    
genomic rearrangement in late onset SMARD1 patient
Variant & Polymorphism
Candidate gene
Therapy target
  • transgenic mice expressing the full-length Ighmbp2 cDNA in myocytes have an increased lifespan up to 8-fold by preventing primary dilated cardiomyopathy and showed complete functional correction as measured by ECG, echocardiography and plasma creatine kinase-MB
  • nmd mice expressing Ighmbp2 both in myocytes and in neurons display correction of both dilated cardiomyopathy and motor neuron disease
  • recessive mutation of the Ighmbp2 gene in neuromuscular degeneration (nmd) mice causes progressive neurogenic atrophy of limb muscles and mice show significant loss of motor neurons with large caliber axons and a moderate reduction of neurons with small caliber axons in the ventral nerve roots of the spinal cord
  • Ighmbp2 protein levels are strongly reduced in neuromuscular degeneration (nmd) mice, the mouse model of SMARD1 and mutant mice show severe motor neuron degeneration
  • Mutations in Ighmbp2 gene cause motor neuron disease and dilated cardiomyopathy in the neuromuscular degeneration (nmd) mouse
  • nmd mice, an animal model of SMARD1, display down-regulation of genes involved in excitatory amino acid toxicity and oxidative stress handling, and an up-regulation of genes related to the chromatin organization