chromodomain helicase DNA binding protein 3
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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. [provided by RefSeq, Jul 2008]
Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity.
From NCBI Gene:
- SNIJDERS BLOK-CAMPEAU SYNDROME
Snijders Blok-Campeau syndrome (SNIBCPS): An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity. [MIM:618205]