OTC

OTC
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1OTH, 1C9Y, 1EP9, 1FVO
Dynodwyr
Cyfenwau	OTC, OCTD, ornithine carbamoyltransferase, ornithine transcarbamylase, OTCD
Dynodwyr allanol	OMIM: 300461 HomoloGene: 446 GeneCards: OTC
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • amino acid binding • transferase activity • carboxyl- or carbamoyltransferase activity • phosphate ion binding • phospholipid binding • ornithine carbamoyltransferase activity Cydrannau o'r gell • cytoplasm • mitochondrial inner membrane • mitochondrial matrix • mitocondria Prosesau biolegol • response to zinc ion • cellular amino acid biosynthetic process • ornithine catabolic process • midgut development • cellular amino acid metabolic process • response to nutrient levels • response to biotin • anion homeostasis • liver development • arginine biosynthetic process • response to insulin • ammonium homeostasis • ornithine metabolic process • protein homotrimerization • urea cycle • citrulline biosynthetic process • arginine biosynthetic process via ornithine Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5009	n/a
Ensembl	ENSG00000036473	n/a
UniProt	P00480	n/a
RefSeq (mRNA)	NM_000531	n/a
RefSeq (protein)	NP_000522	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 OTC yw OTC a elwir hefyd yn Ornithine carbamoyltransferase (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 X dynol, band Xp11.4.

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 OTC.

• OCTD

Llyfryddiaeth

• "A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia. ". Saudi Med J. 2015. PMID 26446336.
• "Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. ". J Genet Genomics. 2015. PMID 26059767.
• "Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. ". J Hum Genet. 2015. PMID 25994866.
• "[Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency]. ". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID 25297582.
• "Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.". Orphanet J Rare Dis. 2014. PMID 25026867.