AAC51735.1
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
593,677 Da
NCBI Official Full Name
ALR
NCBI Official Synonym Full Names
lysine (K)-specific methyltransferase 2D
NCBI Official Synonym Symbols
ALR; KMS; MLL2; MLL4; AAD10; KABUK1; TNRC21; CAGL114 [Similar Products]
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
UniProt Synonym Gene Names
UniProt Entry Name
KMT2D_HUMAN
NCBI Summary for ALR
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 Comments for ALR
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.
Protein type: Transcription regulation; Nuclear receptor co-regulator; Methyltransferase, protein lysine; EC 2.1.1.43; Methyltransferase
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; regulation of transcription, DNA-dependent; transcription, DNA-dependent; response to estrogen stimulus; positive regulation of cell proliferation; positive regulation of estrogen receptor signaling pathway; histone H3-K4 methylation; chromatin silencing; positive regulation of transcription from RNA polymerase II promoter
Disease: Kabuki Syndrome 1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with ALR elisa kit
Pathways associated with ALR elisa kit
Diseases associated with ALR elisa kit
Organs/Tissues associated with ALR elisa kit
|