catalog number :
MBS2519833
products full name :
MAGEL2 Polyclonal Antibody
products short name :
[MAGEL2]
products name syn :
[PWLS; nM15; NDNL1]
other names :
[MAGE-like protein 2; MAGE-like protein 2; MAGE-like protein 2; MAGE-like 2; necdin-like protein 1; protein nM15; melanoma antigen family L2; Necdin-like protein 1; Protein nM15]
products gene name :
[MAGEL2]
other gene names :
[MAGEL2; MAGEL2; PWLS; nM15; NDNL1; NDNL1]
uniprot entry name :
MAGL2_HUMAN
purity :
Affinity purification
storage stability :
Store at -20 degree C (regular) and -80 degree C (long term). Avoid freeze / thaw cycles.
tested application :
ELISA (EIA), Immunohistochemistry (IHC)
app notes :
IHC: 1:50-1:200
image1 heading :
Immunohistochemistry (IHC)
other info1 :
Immunogen: Synthetic peptide of human MAGEL2
other info2 :
Buffer: PBS with 0.05% sodium azide, 50% glycerol, pH7.3
products description :
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.
ncbi acc num :
NP_061939.3
ncbi gb acc num :
NM_019066.4
ncbi summary :
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]
uniprot summary :
MAGE-L2: 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. Interacts with TRIM27. Chromosomal Location of Human Ortholog: 15q11.2. Cellular Component: retromer complex; early endosome; nucleus; endosome. Molecular Function: protein binding; ubiquitin-protein ligase activity. Biological Process: transcription, DNA-dependent; rhythmic process; negative regulation of transcription, DNA-dependent; regulation of circadian rhythm; retrograde transport, endosome to Golgi. Disease: Prader-willi Syndrome; Prader-willi-like Syndrome