The MBD5 Polyclonal Antibody (PAC040930) is a valuable tool for researchers studying MBD5, a key epigenetic regulator involved in neurodevelopmental disorders. This antibody, generated in rabbits, exhibits high reactivity with human samples and has been validated for use in Western blot applications. By targeting the MBD5 protein, this antibody enables accurate detection and analysis in a variety of cell types, making it an essential asset for studies in neuroscience and genetic research.MBD5 is a critical player in the regulation of gene expression and chromatin structure, with mutations in the MBD5 gene linked to intellectual disabilities and developmental delays.
Understanding the function of MBD5 is essential for unraveling the molecular mechanisms underlying these disorders and developing targeted therapies. The MBD5 Polyclonal Antibody provides researchers with a powerful tool to investigate MBD5 function and its implications in neurodevelopment, paving the way for potential therapeutic interventions in the future.
Antibody Name:
MBD5 Antibody (PACO40930)
Antibody SKU:
PACO40930
Size:
50ug
Host Species:
Rabbit
Tested Applications:
ELISA
Recommended Dilutions:
Species Reactivity:
Human
Immunogen:
Recombinant Human Methyl-CpG-binding domain protein 5 protein (623-840AA)
Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).
Synonyms:
Methyl-CpG-binding domain protein 5 (Methyl-CpG-binding protein MBD5), MBD5, KIAA1461
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]
