Aperçu des produits pour anti-Methyl-CpG Binding Domain Protein 5 (MBD5) Anticorps

Full name:: anti-Methyl-CpG Binding Domain Protein 5 Anticorps (MBD5)

Chez www.anticorps-enligne.fr sont 20 Methyl-CpG Binding Domain Protein 5 (MBD5) Anticorps de 0 de différents fournisseurs disponibles. Un total de 27 Methyl-CpG Binding Domain Protein 5 produits sont actuellement listés.

Synonymes:: 9430004D19Rik, AA536666, AI426407, C030040A15Rik, MBD5, MRD1, OTTMUSG00000012483

afficher tous les anticorps	Gène	GeneID	UniProt
Anti-Humain MBD5	MBD5	55777	Q9P267
Anti-Souris MBD5	MBD5	109241
Anti-Rat MBD5	MBD5	311026
Afficher tous les synonymes

Pathways pertinentes pour anti-Methyl-CpG Binding Domain Protein 5 Anticorps

Chromatin Binding

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Plus d’anticorps contre Methyl-CpG Binding Domain Protein 5 partenaires d’interaction

Human Methyl-CpG Binding Domain Protein 5 (MBD5) interaction partners

Based on segregation analysis of a patient (case 296491) with an intragenic deletion of the MBD5 gene, we classified deletions of exons 3 to 4 of the 5' untranslated region (UTR (Montrer UTS2R Anticorps)) of this gene as probably benign. The deletion of exon 3 was shared with the father and paternal uncle, both unaffected
A novel frameshift mutation c.254_255delGA (p.Arg85Asnfs*6) in the MBD5 gene was identified in a family with intellectual disability and epilepsy.
Circadian rhythm gene expression altered by haploinsufficiency of MBD5.
Results show that when MBD5 and RAI1 (Montrer DOM3Z Anticorps) are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development.
Reduced MBD5 dosage leads to mRNA and microRNA expression patterns and DNA methylation (Montrer HELLS Anticorps) patterns more characteristic of differentiating than proliferating neural stem cells. This balance change may underlie neurodevelopmental disorders.
We studied and showed that both MBD5 and MBD6 (Montrer MBD6 Anticorps) interact with the mammalian PR-DUB Polycomb (Montrer CBX2 Anticorps) protein complex in a mutually exclusive manner, and that the MBD (Montrer DPEP1 Anticorps) of MBD5 and MBD6 (Montrer MBD6 Anticorps) is both necessary and sufficient to mediate this interaction.
The features associated with a deletion, mutation or duplication of MBD5 and the gene expression changes observed support MBD5 as a dosage-sensitive gene critical for normal development.
study demonstrates that haploinsufficiency of MBD5 causes diverse phenotypes, yields insight into the spectrum of resulting neurodevelopmental and behavioral psychopathology and provides clinical context for interpretation of MBD5 structural variations.
A genomic copy number variant analysis implicates the MBD5 and HNRNPU (Montrer HNRNPU Anticorps) genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
Identified de novo intragenic deletions of MBD5 in three patients.

Mouse (Murine) Methyl-CpG Binding Domain Protein 5 (MBD5) interaction partners

This study indicates that the Mbd5(+/) (GT) mouse model recapitulates most of the hallmark phenotypes observed in 2q23.1 deletion carriers including abnormal social behavior, cognitive impairment, and motor and craniofacial abnormalities.
MBD5 regulates iron metabolism via methylation-independent genomic targeting of Fth1 (Montrer FTH1 Anticorps).
These results indicate Mbd5 as an essential factor for mouse postnatal growth and maintenance of glucose homeostasis

Methyl-CpG Binding Domain Protein 5 (MBD5) profil antigène

Antigen 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.

Alternative names and synonyms associated with Methyl-CpG Binding Domain Protein 5 (MBD5)

methyl-CpG binding domain protein 5 (MBD5) anticorps
methyl-CpG binding domain protein 5 (mbd5) anticorps
methyl-CpG binding domain protein 5 (Mbd5) anticorps

9430004D19Rik anticorps
AA536666 anticorps
AI426407 anticorps
C030040A15Rik anticorps
MBD5 anticorps
MRD1 anticorps
OTTMUSG00000012483 anticorps

Protein level used designations for MBD5

methyl-CpG binding domain protein 5 , methyl-CpG-binding domain protein 5 , methyl-CpG-binding domain protein 5-like , methyl-CpG-binding protein MBD5

GENE ID	SPECIES
424308	Gallus gallus
483910	Canis lupus familiaris
541084	Bos taurus
721892	Macaca mulatta
100049894	Equus caballus
100145640	Xenopus (Silurana) tropicalis
100397398	Callithrix jacchus
100483698	Ailuropoda melanoleuca
100561778	Anolis carolinensis
55777	Homo sapiens
109241	Mus musculus
311026	Rattus norvegicus

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