GAMT
Protein sy'n cael ei godio yn y corff dynol gan y genyn GAMT yw GAMT a elwir hefyd yn Guanidinoacetate N-methyltransferase (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 19, band 19p13.3.[2]
Cyfystyron
Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn GAMT.
- PIG2
- CCDS2
- TP53I2
- HEL-S-20
Llyfryddiaeth
- "A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. ". Gene. 2016. PMID 26319512.
- "Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. ". Mol Genet Genomics. 2015. PMID 26003046.
- "Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. ". Hum Mutat. 2014. PMID 24415674.
- "Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. ". Mol Genet Metab. 2012. PMID 23031365.
- "Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.". NMR Biomed. 2009. PMID 19288536.
Cyfeiriadau
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