The MPDU1 gene homepage

General information
Gene symbol MPDU1
Gene name mannose-P-dolichol utilization defect 1
Chromosome 17
Chromosomal band p13.1-p12
Imprinted Unknown
Genomic reference NG_009204.1
Transcript reference NM_004870.3, NR_024603.1
Associated with diseases CDG-1F, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 109
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 5
Date created November 30, -0001
Date last updated September 28, 2016
Version MPDU1:160928

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:7207
Entrez Gene 9526
PubMed articles MPDU1
OMIM - Gene 604041
OMIM - Diseases CDG-1F (glycosylation, congenital disorder of, type If (CDG-1F))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022073 17 transcript variant 1 NM_004870.3 NP_004861.2 109
00038180 17 transcript variant 2 NR_024603.1 - -