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
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
rs1060499532 in
SCO2;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 10852545 2000 Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
PMID 15742109 2005 Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.
PMID 14720311 2004 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
PMID 15781193 2005 Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
PMID 19056268 2009 Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
PMID 12084896 2002 MNGIE: diarrhea and leukoencephalopathy.
PMID 17437622 2007 Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.
PMID 23430799 2013 MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.
PMID 19344718 2009 Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
PMID 20151198 2010 Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.
PMID 9924029 1999 Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
PMID 23341816 2012 Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.
PMID 12177387 2002 Phenotypic variability in a Spanish family with MNGIE.