NUDT6

Chr 4

nudix hydrolase 6

Also known as: ASFGF2, FGF-AS, FGF2AS, GFG-1, GFG1

NCBI Gene: 11162 ENSG00000170917 UniProt: P53370

NUDT6 encodes a nucleotidase that hydrolyzes nucleoside diphosphate derivatives including NADH and FAD, and functions as an antisense regulator of FGF2 expression with antiproliferative effects in the pituitary. This gene is extremely tolerant to loss-of-function variants based on population data (pLI = 0.00003), suggesting that biallelic mutations would be required to cause disease. No well-established human disease phenotypes have been definitively linked to NUDT6 mutations.

ResearchSummary from RefSeq, UniProt

This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.95

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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