SIRT4

Chr 12

sirtuin 4

Also known as: SIR2L4

NCBI Gene: 23409 ENSG00000089163 UniProt: Q9Y6E7

The protein functions as a mitochondrial NAD-dependent enzyme that regulates cellular metabolism by removing lipoyl and biotinyl modifications from target proteins, inhibiting pyruvate dehydrogenase complex activity, and modulating glutamine metabolism through ADP-ribosylation of GLUD1. Mutations cause autosomal recessive mitochondrial dysfunction with variable presentation including developmental delay, seizures, and metabolic abnormalities. This gene shows high evolutionary constraint, indicating that loss-of-function variants are poorly tolerated.

ResearchSummary from RefSeq, UniProt

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 IV of the sirtuin family. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.77

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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