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| Cat.No | ACP23657 | Target Name | IGHMBP2 |
|---|---|---|---|
| Target Synonyms | AN1 type domain 7 | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Protein Length | Partial |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | P38935 |
|---|
Uniprot Id
P38935
Target Species
Human
Target Name
IGHMBP2
Target Full Name
DNA-binding protein SMUBP-2
Target Function
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.
Target Involvement
Neuronopathy, distal hereditary motor, 6 (HMN6); Charcot-Marie-Tooth disease 2S (CMT2S)
Target Subcellular Location
Nucleus. Cytoplasm. Cell projection, axon.
Target Protein Families
DNA2/NAM7 helicase family
Target Tissue Specificity
Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts.
Target Synonyms
AEP; Antifreeze enhancer binding protein; ATP-dependent helicase IGHMBP2; Cardiac transcription factor 1; Cardiac transcription factor1; CATF 1; CATF1; CMT2S; DNA-binding protein SMUBP-2; GF-1; Glial factor 1; HCSA; HMN 6; HMN6; IGHMBP 2; Ighmbp2; Immunoglobulin mu binding protein 2; Immunoglobulin mu binding protein2; Immunoglobulin mu-binding protein 2; Immunoglobulin S mu binding protein 2; Immunoglobulin S mu binding protein2; RIPE3 b1; RIPE3b 1; RIPE3b1; SMARD 1; SMARD1; SMBP2_HUMAN; SMUBP 2; SMUBP2; ZFAND7; zinc finger, AN1 type domain 7
Target Background
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.
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