AGXT

AGXT
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1H0C, 1J04, 2YOB, 3R9A, 4CBR, 4CBS, 4I8A, 4KXK, 4KYO
Dynodwyr
Cyfenwau	AGXT, AGT, AGT1, AGXT1, PH1, SPAT, SPT, TLH6, alanine-glyoxylate aminotransferase, alanine--glyoxylate and serine--pyruvate aminotransferase, Ser-PyrAT
Dynodwyr allanol	OMIM: 604285 HomoloGene: 37251 GeneCards: AGXT
EC number	2.6.1.44
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • protein homodimerization activity • amino acid binding • alanine-glyoxylate transaminase activity • serine-pyruvate transaminase activity • transaminase activity • protein self-association • catalytic activity • GO:0001948, GO:0016582 protein binding • pyridoxal phosphate binding • signaling receptor binding • identical protein binding Cydrannau o'r gell • peroxisome • mitochondrial matrix • peroxisomal matrix • mitocondria • intracellular membrane-bounded organelle • cytosol Prosesau biolegol • Notch signaling pathway • oxalic acid secretion • glyoxylate catabolic process • glycine biosynthetic process, by transamination of glyoxylate • pyruvate biosynthetic process • L-alanine catabolic process • response to glucocorticoid • response to cAMP • L-cysteine catabolic process • cellular nitrogen compound metabolic process • glyoxylate metabolic process • protein targeting to peroxisome Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	189	n/a
Ensembl	ENSG00000172482	n/a
UniProt	P21549	n/a
RefSeq (mRNA)	NM_000030	n/a
RefSeq (protein)	NP_000021	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn AGXT yw AGXT a elwir hefyd yn Alanine-glyoxylate aminotransferase (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 2, band 2q37.3.

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 AGXT.

• AGT
• PH1
• SPT
• AGT1
• SPAT
• TLH6
• AGXT1

Llyfryddiaeth

• "Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. ". Ann Hum Genet. 2017. PMID 27935012.
• "Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey. ". Mol Genet Metab. 2016. PMID 27915025.
• "Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T. ". Biochimie. 2016. PMID 27720751.
• "A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation. ". J Genet. 2016. PMID 27659337.
• "Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1.". Nephrology (Carlton). 2016. PMID 26693850.