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Rabbit Anti-KMT2D/ALL1  antibody (bs-16793R)
~~~促销,代码KX240301~~~
~~~促销,代码KX240302~~~
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说明书: 50ul  100ul  200ul
50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包装/询价

产品编号 bs-16793R
英文名称 KMT2D/ALL1
中文名称 ALL1相关蛋白抗体
别    名 AAD10; ALL1 related gene; ALL1-related protein; ALR; CAGL114; Histone-lysine N-methyltransferase MLL2; KABUK1; Kabuki make up syndrome; Kabuki mental retardation syndrome; KMS; KMT2D; Lysine N methyltransferase 2D; MLL2; KMT2D_HUMAN; MLL4; Myeloid/lymphoid or mixed lineage leukemia 2; Myeloid/lymphoid or mixed-lineage leukemia protein 2; TNRC21; Trinucleotide repeat containing 21.  
研究领域 细胞生物  免疫学  表观遗传学  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Mouse (predicted: Human,Rat,Dog,Pig,Cow,Horse,Sheep)
产品应用 IHC-P=1:100-500, IHC-F=1:100-500, ICC=1:100-500, ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理论分子量 593kDa
细胞定位 细胞核 
性    状 Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human KMT2D/ALL1: 1301-1400/5537 
亚    型 IgG
纯化方法 affinity purified by Protein A
缓 冲 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
产品介绍 The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

Function:
Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation.

Subcellular Location:
Nucleus.

Tissue Specificity:
Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.

Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.

DISEASE:
Defects in MLL2 are the cause of Kabuki syndrome (KABS) [MIM:147920]. It is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.

Similarity:
8085

SWISS:
O14686

Gene ID:
8085

Database links:

Entrez Gene: 8085 Human

Omim: 602113 Human

SwissProt: O14686 Human

Unigene: 120228 Human



Belongs to the histone-lysine methyltransferase family.
TRX/MLL subfamily.
Contains 1 FY-rich C-terminal domain.
Contains 1 FY-rich N-terminal domain.
Contains 5 PHD-type zinc fingers.
Contains 1 post-SET domain.
Contains 4 RING-type zinc fingers.
Contains 1 SET domain.
产品图片
Paraformaldehyde-fixed, paraffin embedded (Mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (KMT2D/ALL1) Polyclonal Antibody, Unconjugated (bs-16793R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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