MBD5 gene

methyl-CpG binding domain protein 5

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

From NCBI 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]

From UniProt:

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

From NCBI Gene:

  • Mental retardation, autosomal dominant 1

From UniProt:

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. [MIM:156200]

Cytogenetic Location: 2q23.1, which is the long (q) arm of chromosome 2 at position 23.1

Molecular Location: base pairs 148,021,011 to 148,516,923 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q23.1, which is the long (q) arm of chromosome 2 at position 23.1