KMT2D Antibody (PACO18637)
- SKU:
- PACO18637
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Description
抗体名: | KMT2D Antibody (PACO18637) |
抗体コード: | PACO18637 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, IHC |
推奨される希釈: | ELISA:1:2000-1:5000, IHC:1:50-1:200 |
反応性: | Human |
免疫原: | Synthetic peptide of human KMT2D |
憲法: | Liquid |
ストレージバッファ: | -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
精製方法: | Antigen affinity purification |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using PACO18637(KMT2D Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: x200). |
バックグラウンド: | 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. |
シノニム: | lysine (K)-specific methyltransferase 2D |
UniProt Protein Function: | MLL4: Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. Defects in MLL2 are the cause of Kabuki syndrome type 1 (KABUK1). 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. Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Nuclear receptor co-regulator; Methyltransferase; Transcription regulation; Methyltransferase, protein lysine; EC 2.1.1.43 Chromosomal Location of Human Ortholog: 12q13.12 Cellular Component: nucleoplasm; histone methyltransferase complex; nucleus Molecular Function:protein binding; DNA binding; zinc ion binding; histone lysine N-methyltransferase activity (H3-K4 specific) Biological Process: oogenesis; oocyte growth; establishment and/or maintenance of chromatin architecture; transcription, DNA-dependent; regulation of transcription, DNA-dependent; response to estrogen stimulus; chromatin silencing; positive regulation of cell proliferation; positive regulation of estrogen receptor signaling pathway; histone H3-K4 methylation; positive regulation of transcription from RNA polymerase II promoter Disease: Kabuki Syndrome 1 |
NCBI Summary: | 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] |
UniProt Code: | O14686 |
NCBI GenInfo Identifier: | 2358287 |
NCBI Gene ID: | 8085 |
NCBI Accession: | AAC51735.1 |
UniProt Secondary Accession: | O14686,O14687, |
UniProt Related Accession: | O14686 |
Molecular Weight: | 593,677 Da |
NCBI Full Name: | ALR |
NCBI Synonym Full Names: | lysine (K)-specific methyltransferase 2D |
NCBI Official Symbol: | KMT2D |
NCBI Official Synonym Symbols: | ALR; KMS; MLL2; MLL4; AAD10; KABUK1; TNRC21; CAGL114 |
NCBI Protein Information: | histone-lysine N-methyltransferase 2D; ALL1-related protein; Kabuki make-up syndrome; Kabuki mental retardation syndrome; trinucleotide repeat containing 21; histone-lysine N-methyltransferase MLL2; myeloid/lymphoid or mixed-lineage leukemia 2 |
UniProt Protein Name: | Histone-lysine N-methyltransferase 2D |
UniProt Synonym Protein Names: | ALL1-related protein; Myeloid/lymphoid or mixed-lineage leukemia protein 2 |
Protein Family: | Alanine racemase |
UniProt Gene Name: | KMT2D |
UniProt Entry Name: | KMT2D_HUMAN |