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FLASH GENE

Symbol

IGHMBP2

contributors: mct/npt/shn - updated : 30-12-2010

HGNC name	immunoglobulin mu binding protein 2
HGNC id	5542

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SMARD1 , CMT2S

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   inversion     genomic rearrangement in late onset SMARD1 patient

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
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

ANIMAL & CELL MODELS

	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