CHD2

1106244059ENSG00000173575ENSMUSG00000078671O14647E9PZM4NM_001271NM_001042572NM_001081345NP_001036037NP_001262NP_001074814Chromodomain-helicase-DNA-binding protein 2 is an enzyme that in humans is encoded by the CHD2 gene. Chromodomain-helicase-DNA-binding protein 2 is an enzyme that in humans is encoded by the CHD2 gene. The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. CHD2 catalyzes the assembly of chromatin into periodic arrays; and the N-terminal region of CHD2, which contains tandem chromodomains, serves an auto-inhibitory role in both the DNA-binding and ATPase activities of CHD2. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. De Novo Mutations and deletions in this gene have been associated with cases of epileptic encephalopathies. CHD2 epilepsy is increasingly being identified as a subpopulation of Lennox-Gastaut Syndrome. Recently, de novo mutations or deletions in CHD2 has been linked to intellectual disability and to autism. Researchers found 27 genes which abolish function of the corresponding protein — in at least two people with autism, and 6 genes are mutated in three or more people with autism. These six genes — CHD8, DYRK1A, ANK2, GRIN2B, DSCAM and CHD2 — are the strongest autism candidates identified so far. Syndromes associated with mutations or deletions in CHD2 can be devastating. Families of individuals with CHD2 mutations or deletions can join a research and support group.