ALL1相关蛋白抗体
规格：1mg/1ml
英文名： KMT2D/ALL1
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 methylt
分子量： 593kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human KMT2D/AL
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Sheep,
细胞定位：细胞核
ALL1相关蛋白抗体产品介绍：background: 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 andALL1相关蛋白抗体 normal zygotic genome activation. Subcellular Location: Nucleus. Tissue Specificity: Expressed in most ***** 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 ALL1相关蛋白抗体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 Database links: Entrez Gene: 8085 Human Omim: 602113 Human SwissProt: O14686 Human Unigene: 120228 Human Important Note: 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. 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.
ALL1相关蛋白抗体产品应用：ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 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.
研究领域：细胞生物 **学 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid