Aliases for MBD5 Gene
External Ids for MBD5 Gene
Previous GeneCards Identifiers for MBD5 Gene
This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]
GeneCards Summary for MBD5 Gene
MBD5 (Methyl-CpG Binding Domain Protein 5) is a Protein Coding gene. Diseases associated with MBD5 include Mbd5 Haploinsufficiency and Autosomal Dominant Non-Syndromic Intellectual Disability 1. Among its related pathways are Metabolism of proteins and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is MBD6.
UniProtKB/Swiss-Prot Summary for MBD5 Gene
Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).