The MBD5 Polyclonal Antibody (PAC010408) is a valuable tool for researchers studying MBD5, a protein involved in neurodevelopmental disorders. This antibody, produced in rabbits, exhibits high specificity and sensitivity towards MBD5 in human samples, making it suitable for Western blot applications. By binding to the MBD5 protein, this antibody enables the detection and analysis of MBD5 in various cell types, making it an ideal choice for studies in neuroscience and genetic disorders.MBD5 is known to play a crucial role in brain development and cognitive function, with mutations in the MBD5 gene associated with neurodevelopmental disorders such as autism spectrum disorder and intellectual disability.
Research on MBD5 is essential for understanding the underlying mechanisms of these disorders and developing targeted therapies.Overall, the MBD5 Polyclonal Antibody is a reliable tool for investigating the function and role of MBD5 in neurodevelopmental disorders, paving the way for new insights and potential therapeutic interventions.
methyl-CpG binding domain protein 5;MBD5;FLJ11113;FLJ30517;KIAA1461;MRD1 ;
UniProt Protein Function:
MBD5: Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). Defects in MBD5 are the cause of mental retardation autosomal dominant type 1 (MRD1). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. 2 isoforms of the human protein are produced by alternative splicing.Protein type: Unknown functionChromosomal Location of Human Ortholog: 2q23.1Cellular Component: nucleus; chromocenterMolecular Function: DNA binding; chromatin bindingBiological Process: nervous system development; regulation of multicellular organism growth; glucose homeostasisDisease: Mental Retardation, Autosomal Dominant 1
UniProt Protein Details:
NCBI Summary:
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]
