The gene KMT2D (lysine N-methyltransferase 2D) is mapped to human chromosome 12q13. It belongs to the KMT2 family of histone lysine methyltransferases. The protein has a PHD (plant homeodomain) domain, two FY-rich motifs (FYRC and FYRN) and a catalytic SET (su(var)3-9, enhancer-of-zeste and trithorax) domain.
Synonyms: ALR; CAGL114; MLL2; MLL4; TNRC21
MDL Number: MFCD00675261
Storage: -20C
Application: Anti-KMT2D antibody produced in rabbit has been used in immunohistochemistry, immunofluorescence and chromatin immunoprecipitation.
Biochem Physiol Actions: KMT2D (lysine N-methyltransferase 2D) work as a catalytic subunit for COMPASS (complex of proteins associated to Set1)-like complex and is responsible for the methylation of lysine residue in histone 3. It is required for generation of H3K4me1 (monomethylated histone H3 lysine 4). Changes in the expression of this gene modulate the outcome in pancreatic ductal adenocarcinoma. Mutations in this gene are associated with Kabuki syndrome. KMT2D is also a frequently mutated gene in diffuse large B cell lymphoma (DLBCL) and follicular lymphoma (FL). Loss of this gene enhances lymphomagenesis.
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