rs144124002

This is a variant in the SIRT1 gene that changes a histidine to an arginine.

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ClinVar annotation

Likely Benign★☆☆☆

2 submitters1 publication

SIRT1-related disorder

About SIRT1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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