KMT2D Rabbit Polyclonal Antibody (HA500417)

UNIPROT #

O14686

PROTEIN NAME

KMT2D

SYNONYMS

AAD10 antibody;ALL1 related gene antibody;ALL1-related protein antibody;ALR antibody;CAGL114 antibody;Histone-lysine N-methyltransferase MLL2 antibody;KABUK1 antibody;Kabuki make up syndrome antibody;Kabuki mental retardation syndrome antibody;KMS antibody;KMT2D antibody;Lysine N methyltransferase 2D antibody;MLL2 antibody;MLL2_HUMAN antibody;MLL4 antibody;Myeloid/lymphoid or mixed lineage leukemia 2 antibody;Myeloid/lymphoid or mixed-lineage leukemia protein 2 antibody;TNRC21 antibody;Trinucleotide repeat containing 21 antibody

SUBCELLULAR LOCATION

Nucleus

FUNCTION

Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 and sometimes MLL2 in humans and Mll4 in mice, is a major mammalian histone H3 lysine 4 (H3K4) mono-methyltransferase. It is part of a family of six Set1-like H3K4 methyltransferases that also contains KMT2A (or MLL1), KMT2B (or MLL2), KMT2C (or MLL3), KMT2F (or SET1A), and KMT2G (or SET1B). KMT2D is a large protein over 5,500 amino acids in size and is widely expressed in adult tissues. The protein co-localizes with lineage determining transcription factors on transcriptional enhancers and is essential for cell differentiation and embryonic development. It also plays critical roles in regulating cell fate transition, metabolism, and tumor suppression. Mutations in KMT2D cause human genetic conditions including Kabuki syndrome, another distinct congenital malformations disorder and various forms of cancer. Germline heterozygous loss of function mutations in KMT2D, also known as MLL2 in humans, cause Kabuki syndrome type 1 with mutational occurrence rates between 56% and 75%. Germline heterozygous missense variants in exon 38 or 39 of the KMT2D gene cause another rare distinct multiple malformation disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.