CHD4 gene

chromodomain helicase DNA binding protein 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

From UniProt:

Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones.

From NCBI Gene:

  • SIFRIM-HITZ-WEISS SYNDROME

From UniProt:

Sifrim-Hitz-Weiss syndrome (SIHIWES): An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. [MIM:617159]

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31

Molecular Location: base pairs 6,570,082 to 6,607,439 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31
  • CHD-4
  • Mi-2b
  • Mi2-BETA
  • SIHIWES