CHD proteins

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A family of ATP-dependent chromatin remodelling factors (chromo-ATPase/helicase-DNA-binding proteins) belonging to the SNF2 DNA helicase superfamily, that have conserved double chromodomains. They can act as transcriptional repressors or activators, probably depending on other proteins with which they are associated. CHD7 (2997 aa) is mutated in CHARGE syndrome, and variations in CHD7 are associated with susceptibility to idiopathic scoliosis type 3, Kallmann's syndrome type 5, and idiopathic hypogonadotropic hypogonadism.

Subjects: Medicine and Health.

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