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Product Name MAGEL2 Chinese Name 黑色素瘤抗原样基因2抗体 Alias MAGL2_HUMAN; MAGE-like protein 2; Necdin-like protein 1; Protein nM15; NDNL1; MAGE family member L2; PWLS; SHFYNG; Research Area Tumour immunology Cell type markers TumourCell biologyMaker Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Pig, Cow, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 59kDa Cellular localization The nucleus cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human MAGEL2: 121-220/133 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]
Function:
May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex.
Subunit:
Interacts with TRIM27.
Subcellular Location:
Early endosome 1. Cytoplasm. Nucleus.
Note: Recruited to retromer-containing endosomes via interaction with VPS35. Colocalizes with CLOCK and BMAL1 in the cytoplasm, and with PER2 in the cytoplasm and nucleus (By similarity).
Tissue Specificity:
Expressed in placenta, fetal and adult brain. Not detected in heart and small intestine, very low levels in fibroblasts. Not expressed in brain of a Prader-Willi patient.
DISEASE:
Note=May play a role in Prader-Willi syndrome (PWS) which is a contiguous gene syndrome resulting from inactivity of the paternal copies of a number of genes on 15q11, through deletion or disruption of these genes or maternal uniparental disomy 15. The PWS syndrome is characterized by muscular hypotonia, mental retardation, short stature, obesity, hypogonadotropic hypogonadism, and small hands and feet.
Similarity:
Contains 1 MAGE domain.
SWISS:
Q9UJ55
Gene ID:
54551
Database links:Entrez Gene: 54551 Human
Omim: 605283 Human
SwissProt: Q9UJ55 Human
Unigene: 141496 Human
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