Thymidine Phosphorylase

Alternative Names

  • TYMP
  • TP
  • Endothelial Cell Growth Factor, Platelet-Derived
  • ECGF
  • ECGF1
  • Platelet-Derived Endothelial Cell Growth Factor
  • PDECGF
  • Gliostatin
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OMIM Number

131222

NCBI Gene ID

1890

Uniprot ID

P19971

Length

4,334 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Thymidine phosphorylase

Molecular Mass

49955 Da

Amino Acid Count

482

Genomic Location

chr22:50,525,752-50,530,085

Gene Map Locus
22q13.33

Description

This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001953.5:c.1190T>ATunisiaNC_000022.11:g.50526111A>TLikely PathogenicMitochondrial DNA Depletion Syndrome 1 (MNGIE Type)NG_011860.1:g.8975T>A; NM_001953.5:c.1190T>A; NP_001944.1:p.Leu397Gln
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