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Article

Association of PRPS1 Mutations with Disease Phenotypes.

Disease markers - 1 Jan 2015

Mittal Rahul, Patel Kunal, Mittal Jeenu, Chan Brandon, Yan Denise, Grati M'hamed, Liu Xue Zhong

Abstract excerpt

Phosphoribosylpyrophosphate synthetase 1 (PRPS1) codes for PRS-I enzyme that catalyzes the first step of nucleotide synthesis. PRPS1 gene mutations have been implicated in a number of human diseases. Recently, new mutations in PRPS1 have been identified that have been associated with novel phenotypes like diabetes insipidus expanding the spectrum of PRPS1-related diseases. The purpose of this review is to...

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Source

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Identifiers

PMID: 26089585
DOI: 10.1155/2015/127013
PMCID: PMC4458296

Genes

PRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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