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
	5009
	n/a
	ENSG00000036473
	n/a
	P00480
	n/a
	NM_000531
	n/a
	NP_000522
	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.^[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 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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] OTC - Cronfa NCBI

[1]

[2]