MPDU1 gene homepage

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
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
Exon/intron information NM_004870.3 exon/intron table
Associated with diseases CDG-1F, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Gert Matthijs
Total number of public variants reported 23
Unique public DNA variants reported 22
Individuals with public variants 3
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated April 09, 2019
Version MPDU1:190409

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_004870.3.
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 http://www.LOVD.nl/MPDU1
External URL Congenital Disorder of Glycosylation pages
HGNC 7207
Entrez Gene 9526
PubMed articles MPDU1
OMIM - Gene 604041
OMIM - Diseases CDG-1F (glycosylation, congenital disorder of, type If (CDG-1F))
HGMD MPDU1
GeneCards MPDU1
GeneTests MPDU1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000076 17 mannose-P-dolichol utilization defect 1, transcript variant 1 NM_004870.3 NP_004861.2 23


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