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 mental retardation autosomal dominant type 1. 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, Mar 2010]
GeneCards Summary for MBD5 Gene
MBD5 (Methyl-CpG Binding Domain Protein 5) is a Protein Coding gene. Diseases associated with MBD5 include Autosomal Dominant Non-Syndromic Intellectual Disability and Mbd5 Haploinsufficiency. Among its related pathways are Metabolism of proteins and Deubiquitination. GO annotations related to this gene include chromatin binding. An important paralog of this gene is MBD6.
UniProtKB/Swiss-Prot for MBD5 Gene
Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).