级 别： , , 分析纯,
价 格： 860-1580元
应用范围： ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500
更新时间： 2018/12/3 13:50:00
Rabbit Anti-KMT2D/ALL1 antibody
|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|
|交叉反应||Human, Mouse, Rat, Dog, Pig, Cow, Horse, Sheep,|
|产品应用||ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
|分 子 量||593kDa|
|性 状||Lyophilized or Liquid|
|免 疫 原||KLH conjugated synthetic peptide derived from human KMT2D/ALL1:1301-1400/5537|
|纯化方法||affinity purified by Protein A|
|储 存 液||0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.|
|保存条件||Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.|
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]
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.
Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
Phosphorylated upon DNA damage, probably by ATM or ATR.
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.
Entrez Gene: 8085 Human
Omim: 602113 Human
SwissProt: O14686 Human
Unigene: 120228 Human
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Belongs to the histone-lysine methyltransferase family.
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.