Testing Data
Rabbit anti-Human IGHMBP2 Polyclonal Antibody | anti-IGHMBP2 antibody
IGHMBP2 Antibody
Testing Data
Testing Data
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: EC 3.6.4.12; EC 3.6.4.13; DNA-binding; 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; DNA helicase activity; protein binding; DNA binding; ATP-dependent 5'-3' RNA helicase activity; ATP binding; single-stranded DNA binding
Biological Process: transcription, DNA-dependent; translation; regulation of transcription, DNA-dependent; DNA repair; DNA replication; protein homooligomerization; DNA duplex unwinding; 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 IGHMBP2 ighmbp2 (Catalog #AAA2518669) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The IGHMBP2 Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's IGHMBP2 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). WB: 1:200-1:2000. Researchers should empirically determine the suitability of the IGHMBP2 ighmbp2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "IGHMBP2, Polyclonal Antibody" 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
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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