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MIRAGE
mannose-P-dolichol utilization defect 1

Summary
Gene Symbol
  • MPDU1
Aliases
  • CDGIf
  • Lec35
  • PQLC5
  • SL15
  • SLC66A5
Organism
Homo sapiens (human)
NCBI Gene
9526
HGNC
7207
KEGG Gene ID
hsa:9526
PubChem
9526
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Disease variant
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Transmembrane helix
  • Transport
Proteins
Displaying all 4 entries
UniProt Protein Name
A0A0S2Z4W8
J3QW43
B4DLH7
O75352
  • Suppressor of Lec15 and Lec35 glycosylation mutation homolog
Annotation information from UniProt.
Gene Ontology (GO)
Displaying all 3 entries
GO Term Evidence Code PMID
protein folding
dolichol-linked oligosaccharide biosynthetic process
oligosaccharide biosynthetic process
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
KEGG BRITE Database
Orthology
K09660
Name
mannose-P-dolichol utilization defect 1
References
Disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 40 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000233 Thin vermilion border
HP:0000242 Parietal bossing
HP:0000252 Microcephaly
HP:0000260 Wide anterior fontanel
HP:0000486 Strabismus
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000803 Renal cortical cysts
HP:0000824 Decreased response to growth hormone stimulation test
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79323
  • MPDU1-congenital disorder of glycosylation
OMIM:609180
  • MPDU1-congenital disorder of glycosylation
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025