PCYT1A

PCYT1A
Dynodwyr
Cyfenwau	PCYT1A, CCTA, CT, CTA, CTPCT, PCYT1, SMDCRD, phosphate cytidylyltransferase 1, choline, alpha, phosphate cytidylyltransferase 1A, choline, CCTalpha
Dynodwyr allanol	OMIM: 123695 HomoloGene: 3680 GeneCards: PCYT1A
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • nucleotidyltransferase activity • catalytic activity • protein homodimerization activity • lipid binding • choline-phosphate cytidylyltransferase activity • calmodulin binding • phosphatidylcholine binding Cydrannau o'r gell • cytoplasm • cytosol • bilen • endoplasmic reticulum membrane • glycogen granule • nuclear envelope • Reticwlwm endoplasmig • Cellbilen Prosesau biolegol • biosynthesis • lipid metabolism • phospholipid biosynthetic process • phosphatidylcholine biosynthetic process • CDP-choline pathway Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5130	n/a
Ensembl	ENSG00000161217	n/a
UniProt	P49585	n/a
RefSeq (mRNA)	NM_005017 NM_001312673	n/a
RefSeq (protein)	NP_001299602 NP_005008	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 PCYT1A yw PCYT1A a elwir hefyd yn Phosphate cytidylyltransferase 1, choline, alpha a Choline-phosphate cytidylyltransferase a (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 3, band 3q29.

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 PCYT1A.

• CT
• CTA
• CCTA
• CTPCT
• PCYT1
• SMDCRD

Llyfryddiaeth

• "Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. ". Am J Hum Genet. 2014. PMID 24387990.
• "Nitric oxide-induced activation of NF-κB-mediated NMDA-induced CTP:phosphocholine cytidylyltransferase alpha expression inhibition in A549 cells. ". Cell Biol Toxicol. 2011. PMID 20661636.
• "Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. ". Eur J Hum Genet. 2017. PMID 28272537.
• "Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease. ". Proc Natl Acad Sci U S A. 2014. PMID 24889630.
• "Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.". Am J Hum Genet. 2014. PMID 24387991.