CHD7
Encyclopedia
Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an enzyme
that in humans is encoded by the CHD7 gene
.
CHD7 is an ATP-dependent chromatin remodeler
homologous to the Drosophila
trithorax-group
protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome
.
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 CHD7 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...
.
CHD7 is an ATP-dependent chromatin remodeler
Chromatin remodeling
Chromatin remodeling is the enzyme-assisted movement of nucleosomes on DNA.This is performed by chromatin remodeling complexes like SWI/SNF , RSC and Imitation SWI complexes ....
homologous to the Drosophila
Drosophila
Drosophila is a genus of small flies, belonging to the family Drosophilidae, whose members are often called "fruit flies" or more appropriately pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit...
trithorax-group
Trithorax-group proteins
Trithorax-group proteins are chromatin regulatory proteins which generally act to maintain gene expression. This group of proteins is rather heterogeneous and contains members that form several multiprotein chromatin complexes...
protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome
CHARGE syndrome
CHARGE syndrome , is a syndrome caused by a genetic disorder. It was first described in 1979.In 1981, the term "CHARGE" came into use as an acronym for the set of unusual congenital features seen in a number of newborn children...
.