74 min
- Source: Methyl-cpg binding domain protein 5
5.180.24.3/info/methyl" target="_blank">Methyl-5.180.24.3/info/cpg" target="_blank">CpG 5.180.24.3/info/binding" target="_blank">binding 5.180.24.3/info/domain" target="_blank">domain 5.180.24.3/info/protein" target="_blank">protein 5 is a 5.180.24.3/info/protein" target="_blank">protein that in humans is encoded by the MBD5 gene.
Function
This gene encodes a member of the 5.180.24.3/info/methyl" target="_blank">methyl-5.180.24.3/info/cpg" target="_blank">CpG-5.180.24.3/info/binding" target="_blank">binding 5.180.24.3/info/domain" target="_blank">domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a 5.180.24.3/info/methyl" target="_blank">methyl-5.180.24.3/info/cpg" target="_blank">CpG-5.180.24.3/info/binding" target="_blank">binding 5.180.24.3/info/protein" target="_blank">protein 5.180.24.3/info/binding" target="_blank">binding specifically to methylated DNA. In addition to the MBD 5.180.24.3/info/domain" target="_blank">domain, this 5.180.24.3/info/protein" target="_blank">protein contains a PWWP 5.180.24.3/info/domain" target="_blank">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 5.180.24.3/info/protein" target="_blank">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 variety of Kleefstra 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].
See also
Ciliopathy
References
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public 5.180.24.3/info/domain" target="_blank">domain.
Kata Kunci Pencarian:
- Methyl-cpg binding domain protein 5
- Methyl-CpG-binding domain protein 2
- Methyl-CpG-binding domain
- MECP2
- Zinc finger
- Chromosome 2
- Transcription factor
- Heterochromatin protein 1
- DNA mismatch repair
- TET enzymes
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