The PRPS1 gene homepage

General information
Gene symbol PRPS1
Gene name phosphoribosyl pyrophosphate synthetase 1
Chromosome X
Chromosomal band q22.3
Imprinted Unknown
Genomic reference LRG_264
Transcript reference NM_001204402.1, NM_002764.3
Associated with diseases Arts, CMTX-5, DFNX-1, ID, superactivity, phosphoribosylpyrophosphate synthetase
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 3
Unique public DNA variants reported 1
Individuals with public variants 3
Hidden variants -
Date created November 30, -0001
Date last updated September 20, 2016
Version PRPS1:160920

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:9462
Entrez Gene 5631
PubMed articles PRPS1
OMIM - Gene 311850
OMIM - Diseases Arts (Arts syndrome)
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


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00026468 X transcript variant 2 NM_001204402.1 NP_001191331.1 3
00026467 X transcript variant 1 NM_002764.3 NP_002755.1 -