OXCT1

OXCT1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3DLX
Dynodwyr
Cyfenwau	OXCT1, OXCT, SCOT, 3-oxoacid CoA-transferase 1
Dynodwyr allanol	OMIM: 601424 HomoloGene: 377 GeneCards: OXCT1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • protein homodimerization activity • 3-oxoacid CoA-transferase activity • CoA-transferase activity Cydrannau o'r gell • mitochondrial matrix • mitocondria • nucleoplasm Prosesau biolegol • response to nutrient • response to activity • heart development • brain development • ketone body catabolic process • response to starvation • response to hormone • adipose tissue development • ketone catabolic process • positive regulation of insulin secretion involved in cellular response to glucose stimulus • metabolaeth • response to ethanol • cellular ketone body metabolic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5019	n/a
Ensembl	ENSG00000083720	n/a
UniProt	P55809	n/a
RefSeq (mRNA)	NM_000436	n/a
RefSeq (protein)	NP_000427 NP_001351228 NP_001351229 NP_001351230 NP_001351231 NP_001351232	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 OXCT1 yw OXCT1 a elwir hefyd yn 3-oxoacid CoA-transferase 1 (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 5, band 5p13.1.

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 OXCT1.

• OXCT
• SCOT

Llyfryddiaeth

• "A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.". J Inherit Metab Dis. 2013. PMID 23420214.
• "Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. ". Biochim Biophys Acta. 2011. PMID 21296660.
• "A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene. ". J Inherit Metab Dis. 2010. PMID 20652411.
• "Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.". Tohoku J Exp Med. 2008. PMID 18648183.
• "Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.". Mol Genet Metab. 2007. PMID 17706444.