The PRPS1 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol PRPS1
Gene name phosphoribosyl pyrophosphate synthetase 1
Chromosome X
Chromosomal band q21-q27
Imprinted Unknown
Genomic reference NG_008407.1
Transcript reference NM_002764.3
Exon/intron information NM_002764.3 exon/intron table
Associated with diseases ARTS, CMTX-5, DFNX-1, ID, superactivity, phosphoribosylpyrophosphate synthetase
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 70
Unique public DNA variants reported 44
Individuals with public variants 53
Hidden variants 0
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database is one of the gene variant databases from the:.
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created March 06, 2009
Date last updated October 12, 2020
Version PRPS1:201012

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002764.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 9462
Entrez Gene 5631
PubMed articles PRPS1
OMIM - Gene 311850
OMIM - Diseases ARTS (MRXS18)
CMTX-5 (Charcot-Marie-Tooth disease, X-linked recessive, type 5 (CMTX-5))
DFNX-1 (deafness, X-linked, type 1 (DFNX-1))
superactivity, phosphoribosylpyrophosphate synthetase
GeneCards PRPS1
GeneTests PRPS1

Active transcripts




NCBI ID     

NCBI Protein ID     

00025255 X transcript variant 1 NM_002764.3 NP_002755.1 70

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.