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 1 - 10 of 166 in total
DO ID Disease Name Source
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050773 paraganglioma
DOID:0050865 tongue squamous cell carcinoma
DOID:0060074 ductal carcinoma in situ
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060870 isolated growth hormone deficiency
DOID:0060872 isolated growth hormone deficiency type II
DOID:0060873 isolated growth hormone deficiency type IA
DOID:0060874 isolated growth hormone deficiency type IB
The Human Phenotype Ontology
Displaying entries 61 - 70 of 70 in total
HPO ID HPO Term
HP:0007108 Demyelinating peripheral neuropathy
HP:0007141 Sensorimotor neuropathy
HP:0008049 Abnormality of the extraocular muscles
HP:0009027 Foot dorsiflexor weakness
HP:0009830 Peripheral neuropathy
HP:0011024 Abnormality of the gastrointestinal tract
HP:0012103 Abnormality of the mitochondrion
HP:0012533 Allodynia
HP:0012850 Small intestinal dysmotility
HP:0100613 Death in early adulthood
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