fukutin

Summary
Gene Symbol
  • Fktn
Organism
Mus musculus (house mouse)
External Links
NCBI Gene
246179
KEGG Gene ID
mmu:246179
PubChem
246179
Alliance of Genome Resources
Annotation
Keyword
  • Cytoplasm
  • Endoplasmic reticulum
  • Glycoprotein
  • Golgi apparatus
  • Nucleus
  • Proteomics identification
  • Reference proteome
  • Signal-anchor
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q8R507
  • Fukutin
  • Fukuyama-type congenital muscular dystrophy protein
  • Ribitol-5-phosphate transferase
A0A1Y7VM91
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K19872
Name
fukutin [EC:2.7.8.-]
References
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0050559 Fukuyama congenital muscular dystrophy
DOID:0050560 Walker-Warburg syndrome
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L
DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M
DOID:0110443 dilated cardiomyopathy 1B
DOID:0110444 dilated cardiomyopathy 1X
DOID:0112379 muscular dystrophy-dystroglycanopathy type B4
DOID:9884 muscular dystrophy

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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: August 19, 2024