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IGHMBP2 encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Additionally we are shipping and many more products for this protein.
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Case report and review of 20 reported spinal muscular atrophy with respiratory distress type I cases that have no respiratory involvement or have late onsets, propose that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity
demonstration of 2 additional mutations in the IGHMBP2 gene associated with hereditary motor and sensory neuropathy
The IGHMBP2 gene was not found to be a major causative gene linked to Han Chinese non-5q-spinal muscular atrophy patients.
Spinal muscular atrophy with respiratory distress type 1 that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin mu-binding protein.
Mutations in IGHMBP2 were identified in patients presenting with axonal sensorimotor neuropathy.
IGHMBP2 overexpression may promote invasion and migration of esophageal squamous carcinoma cells through down-regulation of E-cadherin (show CDH1 Antibodies).
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
6 novel IGHMBP2 mutations were identified in 5 SMARD1 patietns
Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy.
Results reveal the critical role of the R3H domain in modulation of enzymatic and RNA-binding activities of Ighmbp2.
These data emphasize that neuromuscular degeneration as a result of Ighmbp2 mutation will compromise several critical parameters of bone quantity and architecture, the most severe occurring in the trabecular compartment.
Ighmbp2 protein levels are strongly reduced in neuromuscular degeneration (nmd) mice, the mouse model of SMARD1.
Double-transgenic nmd mice expressing Ighmbp2 both in myocytes and in neurons display correction of both dilated cardiomyopathy and motor neuron disease.
IGHMBP2 is functionally linked to translation, and that mutations in its helicase (show DNA2 Antibodies) domain interfere with this function in distal spinal muscular atrophy type 1 patients.
IGHMBP2 is a component of the translational machinery.
This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1.
immunoglobulin mu binding protein 2
, DNA-binding protein SMUBP-2
, DNA-binding protein SMUBP-2-like
, ATP-dependent helicase IGHMBP2
, cardiac transcription factor 1
, glial factor 1
, immunoglobulin mu-binding protein 2
, zinc finger, AN1-type domain 7
, antifreeze enhancer-binding protein
, immunoglobulin S mu binding protein 2
, neuromuscular degeneration
, p110 subunit
, antifreeze enhancer-binding protein ortholog
, Immunoglobulin mu-binding protein 2
, RIPE3B-binding complex 3B2 p110 subunit
, insulin II gene enhancer-binding protein