MBD1 Chromosome 18
Methyl-CpG binding domain protein 1
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What This Gene Does
The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"Zinc fingers CXXC-type|Methyl-CpG binding domain containing"
Locus Type
gene with protein product
Location
18q21.1
Ensembl
ENSG00000141644
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116201949 | Health Risk | Conflicting classifications of pathogenicity | — |