Gene: SCARNA21

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: CHD3

Alternate names for this Gene: Mi-2a|Mi2-ALPHA|SNIBCPS|ZFH

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: chromodomain helicase DNA binding protein 3

Type of Gene: protein-coding

rs1567863732 in SCARNA21;CHD3 gene and SNIJDERS BLOK-CAMPEAU SYNDROME PMID 30397230 2018 CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.