GAMT

GAMT
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3ORH
Dynodwyr
Cyfenwau	GAMT, CCDS2, HEL-S-20, PIG2, TP53I2, guanidinoacetate N-methyltransferase
Dynodwyr allanol	OMIM: 601240 HomoloGene: 32089 GeneCards: GAMT
EC number	2.1.1.2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0102674, GO:0102675 methyltransferase activity • transferase activity • guanidinoacetate N-methyltransferase activity • S-adenosylmethionine-dependent methyltransferase activity Cydrannau o'r gell • cytoplasm • cytosol • cnewyllyn cell Prosesau biolegol • muscle contraction • regulation of multicellular organism growth • methylation • spermatogenesis • animal organ morphogenesis • creatine metabolic process • creatine biosynthetic process • S-adenosylhomocysteine metabolic process • S-adenosylmethionine metabolic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2593	n/a
Ensembl	ENSG00000130005	n/a
UniProt	Q14353	n/a
RefSeq (mRNA)	NM_138924 NM_000156	n/a
RefSeq (protein)	NP_000147 NP_620279	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

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]

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.

• "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.