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SMUBP2 Rabbit pAb

SMUBP2 Rabbit pAb

     
  • 14 - SMUBP2 Rabbit pAb AP54619
    Paraformaldehyde-fixed, paraffin embedded (mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (SMUBP2) Polyclonal Antibody, Unconjugated (AP54619) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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Product Information
Application
  • Applications Legend:
  • E=ELISA
  • WB=Western Blotting
  • IHC=Immunohistochemistry
  • IHC-P=Immunohistochemistry (Paraffin)
  • IP=Immunoprecipitation
  • IF=Immunofluorescence
  • IC=Immunochemistry
  • ICC=Immunocytochemistry
  • FC=Flow Cytometry
  • DB=Dot Blot
IHC-P, IHC-F, IF
Primary Accession P38935
Reactivity Mouse
Predicted Rat, Pig, Human, Sheep
Host Rabbit
Clonality Polyclonal
Calculated MW 109149 Da
Physical State Liquid
Immunogen KLH conjugated synthetic peptide derived from human SMUBP2
Epitope Specificity 271-355/993
Isotype IgG
Purity affinity purified by Protein A
Buffer 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
SUBCELLULAR LOCATION Nucleus. Cytoplasm.
DISEASE Defects in IGHMBP2 are the cause of distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]; 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.
Important Note This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Background Descriptions IGHMBP2 is a 993 amino acid nuclear and cytoplasmic protein that is ubiquitously expressed. Belonging to the DNA2/NAM7 helicase family, IGHMBP2 is a 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. IGHMBP2 also acts as a transcriptional regulator and is necessary for transcriptional activation of the flounder liver-type antifreeze protein gene. IGHMBP2 exists as a homooligomer and is part of the cytosolic ribonucleoprotein complex. Mutations in the gene encoding IGHMBP2 are suggested to lead to 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). HMN6 is characterized by weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs and severe respiratory distress.
Additional Information
Gene ID 3508
Other Names DNA-binding protein SMUBP-2, 3.6.4.12, 3.6.4.13, ATP-dependent helicase IGHMBP2, Glial factor 1, GF-1, Immunoglobulin mu-binding protein 2, IGHMBP2, SMBP2, SMUBP2
Dilution IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500
StorageStore at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

For Research Use Only. Not For Use In Diagnostic Procedures.

Protein Information
Name IGHMBP2
Synonyms SMBP2, SMUBP2
Function 5' to 3' helicase that unwinds both RNA and DNA duplexes in an ATP-dependent reaction (Probable) (PubMed:19158098, PubMed:30218034). Specific to 5'-phosphorylated single-stranded guanine-rich sequences (PubMed:22999958, PubMed:8349627). May play a role in RNA metabolism, ribosome biogenesis or initiation of translation (PubMed:19158098, PubMed:19299493). May play a role in regulation of transcription (By similarity). Interacts with tRNA-Tyr (PubMed:19299493). Has low processivity (PubMed:30218034).
Cellular Location Nucleus. Cytoplasm. Cell projection, axon {ECO:0000250|UniProtKB:P40694}
Tissue Location Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts
Research Areas

BACKGROUND

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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