CHD2 Antibody

1. Germline mosaicism resulted in a CHD2 gene missense variant and the development of autism spectrum disorder in two siblings. PMID: 28960266
2. study reports monozygotic twins with a global neurodevelopmental delay associated with an autism spectrum disorder, hypotonia, postnatal microcephaly, stereotypic movements and circadian rhythm alterations in association with late-onset epilepsy; identified a CHD2 mutation, previously described in association with a phenotypic spectrum overlapping our patients' phenotype PMID: 26754451
3. Results indicate a PARP1-dependent mechanism that regulates non-homologous end-joining through localized chromatin expansion and deposition of the histone variant H3.3 by CHD2 at DNA breaks promoting DNA repair. PMID: 26895424
4. CHD2 mutations are responsible in rare cases for generalized epilepsy with myoclonic-atonic seizures. PMID: 26262932
5. CHD2 is a cancer driver and has a role as chromatin remodeler in chronic lymphocytic leukemia. PMID: 26031915
6. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome PMID: 25783594
7. The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy with marked photosensitivity. PMID: 25672921
8. Human CHD2 is a chromatin assembly ATPase regulated by its chromatin- and DNA-binding domains. PMID: 25384982
9. Our findings suggest that CHD2 mutations are important in the etiological spectrum of Lennox-Gastaut syndrome. PMID: 24614520
10. De novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures. PMID: 24207121
11. De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. PMID: 23708187
12. detected a homozygous deletion of chromosomal region 15q26.2 in the cell line HDLM2 encompasing RGMA and CHD2 PMID: 17606441

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HGNC: 1917

OMIM: 602119

KEGG: hsa:1106

STRING: 9606.ENSP00000377747

UniGene: Hs.220864