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Cystathionine beta synthase
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{{stub}} '''Cystathionine Beta Synthase''' or CBS is an enzyme in the [[methionine]] catabolic pathway.<ref name="Morris2018" /> ==Function== [[File:Methionine-metabolism.jpg|thumb|'''Methionine metabolic pathways'''<br /> '''Key'''<br /> '''SAM:''' [[SAM-e|S-adenosylmethionine]] (SAM-e)<br /> '''SAH:''' S-adenosylhomocysteine<br /> '''THF:''' tetrahydrofolate<br /> '''MeCbl:''' [[methylcobalamin]]<br /> 1. [[Cystathionine beta synthase|Cystathionine beta-synthase]] (CBS)<br /> 2. methionine adenosyltransferase I/III<br /> 3. methionine adenosyltransferase II<br /> 4. glycine N-methyltransferase<br /> 5. numerous methyltransferases<br /> 6. S-adenosylhomocysteine hydrolase<br /> 7. methionine synthase<br /> 8. betaine-homocysteine methyltransferase<br /> 9. [[L-serine|Serine]] hydroxymethyltransferase<br /> 10. methylenetetrahydrofolate reductase<br /> 11. cystathionine gamma-lyase<br />]] ==CBS deficiency == CBS deficiency is rare and physical signs commonly associated with it are: *eye lens dislocated (ectopia lentis) and/or severe short-sighted vision * being very tall, with long limbs similar to in Marfan's syndrome, osteoporosis and bone deformities (e.g., pectus excavatum or carinatum, genu valgum and scoliosis) *intellectual disability or developmental delay, [[seizure]]s, [[mental health|psychiatric and behavioural]] problems and extrapyramidal signs *Vascular system: blood clots moving to obstruct blood vessels (thromboembolism)<ref name="Morris2018" /> ==ME/CFS== ==Notable studies == *2017, Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency<ref name="Morris2018">{{Cite journal | last = Morris | first = Andrew A.M. | last2 = Kožich | first2 = Viktor | last3 = Santra | first3 = Saikat | last4 = Andria | first4 = Generoso | last5 = Ben-Omran | first5 = Tawfeg I.M. | last6 = Chakrapani | first6 = Anupam B. | last7 = Crushell | first7 = Ellen | last8 = Henderson | first8 = Mick J. | last9 = Hochuli | first9 = Michel | date = 2017 | title=Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency | url = https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203861/|journal=Journal of Inherited Metabolic Disease|volume=40|issue=1 | pages = 49–74|doi=10.1007/s10545-016-9979-0|issn=0141-8955|pmc=5203861|pmid=27778219}}</ref> [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203861/ (Full text)] ==See also == *[[Genetics of chronic fatigue syndrome]] *[[Amy Yasko]] *[[Methylation cycle]] ==Learn more== *[http://web.mit.edu/london/www/cbs.html - CBS Upregulation, Myth or Reality, Mark London (not peer reviewed)] *[] ==References == {{Reflist}} [[Category:Enzymes]] [[Category:Methylation]] [[Category:Genes]]
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