thymidine phosphorylase

Summary
Gene Symbol
  • TYMP
Aliases
  • gliostatin
Organism
Homo sapiens (human)
External Links
NCBI Gene
1890
HGNC
3148
PubChem
1890
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Angiogenesis
  • Chemotaxis
  • Developmental protein
  • Differentiation
  • Direct protein sequencing
  • Disease variant
  • Glycosyltransferase
  • Growth factor
  • Neuropathy
  • Phosphoprotein
  • Progressive external ophthalmoplegia
  • Reference proteome
  • Repeat
Proteins
Displaying all 3 entries
UniProt Protein Name
E5KRG5
  • TdRPase
B2RBL3
  • TdRPase
P19971
  • Gliostatin
  • Platelet-derived endothelial cell growth factor
  • TdRPase
Gene Ontology (GO)
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
cytosol
Disease
Disease Ontology
Displaying entries 21 - 30 of 166 in total
DO ID Disease Name Source
DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia
DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia
DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia
DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia
DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia
DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia
DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia
DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia
DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia
DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 70 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000044 Hypogonadotropic hypogonadism
HP:0000407 Sensorineural hearing impairment
HP:0000508 Ptosis
HP:0000544 External ophthalmoplegia
HP:0000590 Progressive external ophthalmoplegia
HP:0000597 Ophthalmoparesis
HP:0000651 Diplopia
HP:0000726 Dementia
HP:0000815 Hypergonadotropic hypogonadism
Displaying all 2 entries
Disease ID Disease Name
ORPHA:298
  • mitochondrial DNA depletion syndrome 1
  • mitochondrial DNA depletion syndrome 4b
  • mitochondrial DNA depletion syndrome 8a
  • mitochondrial neurogastrointestinal encephalomyopathy
OMIM:603041
  • mitochondrial DNA depletion syndrome 1

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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