SIRT1 Chromosome 10

Sirtuin 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
"Sirtuins|eNoSC complex"
Locus Type
gene with protein product
Location
10q21.3
Ensembl
ENSG00000096717
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS751564985 Health Risk Conflicting classifications of pathogenicity
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