Gene: TYMP

Alternate names for this Gene: ECGF|ECGF1|MEDPS1|MNGIE|MTDPS1|PDECGF|TP|hPD-ECGF

Gene Summary: 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.33

Description of this Gene: thymidine phosphorylase

Type of Gene: protein-coding

rs470119 in TYMP gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs470119 in TYMP gene and Finding of Mean Corpuscular Hemoglobin PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs470119 in TYMP gene and Hemoglobin measurement PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs1054084896 in TYMP gene and Mitochondrial DNA Depletion Syndrome 1 PMID 21933806 2011 Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

PMID 12529715 2003 Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.

PMID 15505189 2004 Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.

PMID 15781193 2005 Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.

PMID 18280229 2008 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.

PMID 14720311 2004 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

PMID 10852545 2000 Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

PMID 9924029 1999 Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

PMID 12177387 2002 Phenotypic variability in a Spanish family with MNGIE.

PMID 12084896 2002 MNGIE: diarrhea and leukoencephalopathy.

PMID 14757860 2004 MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.

PMID 20232099 2010 A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

PMID 17294068 2007 Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

rs470119 in TYMP gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.