mutY DNA glycosylase

Summary
Gene Symbol
  • MUTYH
Aliases
  • MYH
Organism
Homo sapiens (human)
External Links
NCBI Gene
4595
HGNC
7527
PubChem
4595
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • 4Fe-4S
  • Alternative splicing
  • DNA repair
  • Disease variant
  • Glycosidase
  • Mitochondrion
  • Nucleus
  • Proteomics identification
  • Reference proteome
  • Tumor suppressor
Proteins
Displaying all 6 entries
UniProt Protein Name
E5KP28
E5KP26
E5KP27
E9PM53
Q9UIF7
  • MutY homolog
E5KP25
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying entries 1 - 10 of 150 in total
DO ID Disease Name Source
DOID:0050424 familial adenomatous polyposis
DOID:0050465 Muir-Torre syndrome
DOID:0050589 inflammatory bowel disease
DOID:0050638 transthyretin amyloidosis
DOID:0050646 distal arthrogryposis
DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome
DOID:0050757 deafness-dystonia-optic neuronopathy syndrome
DOID:0050787 juvenile polyposis syndrome
DOID:0060389 chromosome 10q23 deletion syndrome
DOID:0080144 childhood acute lymphocytic leukemia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 61 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000505 Visual impairment
HP:0000708 Atypical behavior
HP:0000716 Depression
HP:0000737 Irritability
HP:0000738 Hallucinations
HP:0000739 Anxiety
HP:0001123 Visual field defect
HP:0001250 Seizure
HP:0001252 Hypotonia
Displaying all 4 entries
Disease ID Disease Name
OMIM:613659
  • gastric cancer
ORPHA:440437
  • familial colorectal cancer type X
ORPHA:247798
  • familial adenomatous polyposis 2
OMIM:608456
  • familial adenomatous polyposis 2

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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