Anti-KMT2D Antibody (CAB18857)

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SKU:
CAB18857
Product Type:
Antibody
Antibody Type:
Polyclonal Antibody
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG

Description

Product Name:KMT2D Rabbit pAb
Product Code:CAB18857
Size:20uL, 50uL, 100uL
Applications:IHC
Reactivity:Rat
Host Species:Rabbit
Immunogen:Recombinant protein of human KMT2D.
Applications:IHC
Recommended Dilutions:IHC 1:50 - 1:200
Reactivity:Rat
Immunogen:Recombinant protein of human KMT2D.
Purification Method:Affinity purification
Storage:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:8085
Uniprot:O14686
Observed MW:Refer to figures
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
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