IGHMBP2, Polyclonal Antibody

CATF1; FLJ34220; FLJ41171; HCSA; HMN6; SMARD1; SMUBP2

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Antigen affinity purification

Store at -20 degree C. Avoid freeze / thaw cycles

Manufactured in an ISO 9001:2015 Certified Laboratory.

Small volumes of anti-IGHMBP2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ELISA (EIA), Western Blot (WB)

WB: 1:200-1:2000

109,149 Da

immunoglobulin mu binding protein 2

DNA-binding protein SMUBP-2; ATP-dependent helicase IGHMBP2; GF-1; cardiac transcription factor 1; glial factor 1; immunoglobulin mu-binding protein 2; zinc finger, AN1-type domain 7

DNA-binding protein SMUBP-2

SMBP2; SMUBP2; GF-1  [Similar Products]

SMBP2_HUMAN

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]

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

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