Recombinant人Gemin 1 protein (ab114802)

概述

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionQ16637-3
    • 种属Human
    • 序列MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASF KHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSA IWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVAN NIEQNAQENENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPM PGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGPPIIPPPPPIC PDSLDDADALGSMLISWYMSGYHTGYYMEMLA
    • 分子量57 kDa including tags
    • 氨基酸1 to 282

技术指标

Our Abpromise guarantee covers the use of ab114802 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    Western blot

    SDS-PAGE

    ELISA

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 µg/ul.
    Best used within three months from the date of receipt.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

常规信息

  • 别名
    • BCD541
    • Component of gems 1
    • Gemin 1
    • Gemin-1
    • OTTHUMP00000125198
    • OTTHUMP00000223567
    • OTTHUMP00000223568
    • OTTHUMP00000224066
    • OTTHUMP00000226924
    • SMA
    • SMA 1
    • SMA 2
    • SMA 3
    • SMA 4
    • SMA@
    • SMA1
    • SMA2
    • SMA3
    • SMA4
    • SMN
    • SMN_HUMAN
    • SMN1
    • SMN2
    • SMNT
    • Survival motor neuron protein
    • Survival of motor neuron 1, telomeric
    • T-BCD541
    see all
  • 功能The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs.
  • 组织特异性Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level).
  • 疾病相关Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit.
    Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]. SMA2 is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood.
    Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]. SMA3 is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand and walk and survive into adulthood.
    Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4) [MIM:271150]. SMA4 is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in adulthood and slow disease progression. SMA4 patients can stand and walk.
  • 序列相似性Belongs to the SMN family.
    Contains 1 Tudor domain.
  • 细胞定位Cytoplasm. Nucleus > gem. Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies.
  • Information by UniProt

Recombinant Human Gemin 1 protein 图像

  • ab114802 on 12.5% SDS-PAGE Stained with Coomassie Blue.

Recombinant Human Gemin 1 protein (ab114802)参考文献

ab114802 has not yet been referenced specifically in any publications.

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