Recombinant Human Gemin 1 protein (ab114802)

製品の概要

製品の詳細

  • 由来Recombinant
  • 由来Wheat germ
  • アミノ酸配列
    • アクセッション番号Q16637-3
    • 生物種Human
    • 配列MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASF KHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSA IWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVAN NIEQNAQENENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPM PGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGPPIIPPPPPIC PDSLDDADALGSMLISWYMSGYHTGYYMEMLA
    • 分子量57 kDa including tags
    • 領域1 to 282

特性

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.

  • アプリケーション

    Western blot

    SDS-PAGE

    ELISA

  • 製品の状態Liquid
  • 備考Protein concentration is above or equal to 0.05 µg/ul.
    Best used within three months from the date of receipt.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    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

関連情報

  • 別名
    • 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
  • 機能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.
  • 組織特異性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).
  • 関連疾患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.
  • 配列類似性Belongs to the SMN family.
    Contains 1 Tudor domain.
  • 細胞内局在Cytoplasm. Nucleus > gem. Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies.
  • Information by UniProt

Recombinant Human Gemin 1 protein 画像

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

Recombinant Human Gemin 1 protein (ab114802) 使用論文

ab114802 has not yet been referenced specifically in any publications.

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