PRPSAP2

Chr 17

phosphoribosyl pyrophosphate synthetase associated protein 2

Also known as: PAP41

NCBI Gene: 5636 ENSG00000141127 UniProt: O60256

The protein plays a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis, a key step in purine and pyrimidine nucleotide biosynthesis. Mutations cause Arts syndrome, an X-linked disorder characterized by profound intellectual disability, early-onset sensorineural hearing loss, delayed growth, and increased susceptibility to infections. The gene shows tolerance to loss-of-function variants (pLI 0.003), which is consistent with X-linked inheritance where males are primarily affected.

ResearchSummary from UniProt

This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.77

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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