MLL2
Encyclopedia
Histone-lysine N-methyltransferase MLL2 is an enzyme
that in humans is encoded by the MLL2 gene
.
This is a Trithorax-group protein
The gene was originally named MLL2 after myeloid/lymphoid or mixed-lineage leukemia cases. It is now understood that its effect in lymphomagenesis is via the disruption of chromatin regulation.
In August 2010, a study found that two thirds of a sample of 53 cases of Kabuki Syndrome
have a loss-of-function mutation in the MLL2 gene.
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
that in humans is encoded by the MLL2 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
This is a Trithorax-group protein
The gene was originally named MLL2 after myeloid/lymphoid or mixed-lineage leukemia cases. It is now understood that its effect in lymphomagenesis is via the disruption of chromatin regulation.
In August 2010, a study found that two thirds of a sample of 53 cases of Kabuki Syndrome
Kabuki syndrome
Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome, is a pediatric congenital disorder of suspected genetic origin with multiple congenital anomalies and intellectual disabilities. It is very rare, affecting roughly one in every 32,000 individuals...
have a loss-of-function mutation in the MLL2 gene.