MBD5

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]

Full Name

Methyl-CpG Binding Domain Protein 5

Function

Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).

Biological Process

Glucose homeostasis Source: UniProtKB
Nervous system development Source: UniProtKB
Positive regulation of growth hormone receptor signaling pathway Source: UniProtKB
Regulation of behavior Source: UniProtKB
Regulation of multicellular organism growth Source: UniProtKB

Cellular Location

Isoform 1:
Nucleus
Other locations
Chromosome
Note: Associated with pericentric heterochromatin.
Isoform 2:
Nucleus
Note: Not associated with pericentric heterochromatin.

Involvement in disease

Mental retardation, autosomal dominant 1 (MRD1):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.