MBD1 Chromosome 18

Methyl-CpG binding domain protein 1
1 variant 1 Health Risk

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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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS116201949 Health Risk Conflicting classifications of pathogenicity
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