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

Gene: SCO2

Alternate names for this Gene: CEMCOX1|ECGF1|Gliostatin|MC4DN2|MYP6|PD-ECGF|SCO1L|TP|TYMP|TdRPase

Gene Summary: Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.33

Description of this Gene: synthesis of cytochrome C oxidase 2

Type of Gene: protein-coding

rs131804 in TYMP;SCO2 gene and Finding of Mean Corpuscular Hemoglobin PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1060499534 in TYMP;SCO2 gene and Mitochondrial DNA Depletion Syndrome 1 PMID 21933806 2011 Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

PMID 19748572 2009 Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

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

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

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

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

PMID 16198108 2005 Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

PMID 16178026 2005 Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

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

rs131801 in TYMP;SCO2 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs131801 in TYMP;SCO2 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.