Variants
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CHD7 Gene

chromodomain helicase DNA binding protein 7

ALIAS SYMBOLS

  • KIAA1416

  • FLJ20357

  • FLJ20361

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Description

The CHD7 gene provides instructions for making a protein called chromodomain helicase DNA binding protein 7. This protein is found in many parts of the body before birth, including the eye, the inner ear, and the brain. In the brain, the CHD7 protein is active in several areas, including a bundle of nerve cells (neurons) called the olfactory bulb that is critical for the perception of odors.

The CHD7 protein belongs to a family of proteins that are thought to play a role in the organization of chromatin. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The CHD7 protein regulates the activity (expression) of several other genes through a process known as chromatin remodeling. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Researchers are working to determine which genes the CHD7 protein regulates.

CHROMOSOME

8


LOCATION

q12.2


LOCUS TYPE

gene with protein product

VARIANTS

1,597

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:20626

  • NCBI

    55636

  • OMIM

    608892

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