Chromodomain-helicase-DNA-binding protein 3 is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''CHD3''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
This gene encodes a member of the
CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described.
Mutations in CHD3 cause a neurodevelopmental syndrome (
Snijders Blok-Campeau syndrome
Snijders Blok-Campeau syndrome is a genetic disorder caused by mutations in the CHD3 gene. It is characterized by impaired intellectual development, macrocephaly, dysarthria and apraxia of speech, and certain distinctive facial features.
Snijd ...
) with macrocephaly and impaired speech and language.
Interactions
CHD3 has been shown to
interact
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with:
*
HDAC1
Histone deacetylase 1 (HDAC1) is an enzyme that in humans is encoded by the ''HDAC1'' gene.
Function
Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. T ...
,
*
Histone deacetylase 2
Histone deacetylase 2 (HDAC2) is an enzyme that in humans is encoded by the ''HDAC2'' gene. It belongs to the histone deacetylase class of enzymes responsible for the removal of acetyl groups from lysine residues at the N-terminal region of the c ...
SERBP1
Plasminogen activator inhibitor 1 RNA-binding protein (serbp1) is a protein that in humans is encoded by the ''SERBP1'' gene.
Interactions
SERBP1 has been shown to Protein-protein interaction, interact with CHD3.
References
Further reading
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References
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