DMAP1 Chromosome 1

DNA methyltransferase 1 associated protein 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Myb/SANT domain containing|SRCAP complex subunits|Tip60/Nua4 histone acetyltransferase complex subunits"
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000178028
Associated Conditions (3)
Intellectual disability
Abnormal facial shape
Seizure
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS750381568 Health Risk Likely pathogenic Intellectual disability, Abnormal facial shape, Seizure
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