Human immunoglobulin mu binding protein 2 ELISA Kit | IGHMBP2 elisa kit
Human DNA-binding protein SMUBP-2, IGHMBP2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jul 2008]
Uniprot Description
IGHMBP2: 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver- type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation. DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV. Defects in IGHMBP2 are the cause of distal hereditary motor neuronopathy type 6 (HMN6); also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1). Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. The most prominent symptoms of HMN6 are severe respiratory distress resulting from diaphragmatic paralysis with eventration shown on chest x-ray and predominant involvement of the upper limbs and distal muscles. Belongs to the DNA2/NAM7 helicase family.
Protein type: DNA-binding; EC 3.6.4.13; EC 3.6.4.12; Helicase
Chromosomal Location of Human Ortholog: 11q13.3
Cellular Component: growth cone; membrane; axon; cytoplasm; SMN complex; nucleus; ribonucleoprotein complex
Molecular Function: DNA-dependent ATPase activity; RNA-dependent ATPase activity; zinc ion binding; RNA binding; ATP-dependent 5'-3' DNA helicase activity; ribosome binding; transcription factor binding; tRNA binding; protein binding; DNA helicase activity; DNA binding; ATP-dependent 5'-3' RNA helicase activity; single-stranded DNA binding; ATP binding
Biological Process: translation; regulation of transcription, DNA-dependent; transcription, DNA-dependent; DNA replication; DNA repair; DNA duplex unwinding; protein homooligomerization; DNA recombination
Disease: Charcot-marie-tooth Disease, Axonal, Type 2s; Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Research Articles on IGHMBP2
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Product Notes
The Human IGHMBP2 ighmbp2 (Catalog #AAA9320245) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9320245 ELISA Kit recognizes Human IGHMBP2. It is sometimes possible for the material contained within the vial of "immunoglobulin mu binding protein 2, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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