PITX3

PITX3
Dynodwyr
Cyfenwau	PITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3, ASGD1
Dynodwyr allanol	OMIM: 602669 HomoloGene: 3689 GeneCards: PITX3
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • DNA binding • sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cydrannau o'r gell • cnewyllyn cell • soma Prosesau biolegol • animal organ morphogenesis • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • multicellular organism development • dopaminergic neuron differentiation • regulation of gene expression • neuron development • lens development in camera-type eye • GO:0009373 regulation of transcription, DNA-templated • lens fiber cell differentiation • lens morphogenesis in camera-type eye • transcription by RNA polymerase II • locomotory behavior • midbrain development • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • transcription, DNA-templated • GO:0010260 heneiddio • negative regulation of gliogenesis • response to immobilization stress • adwaith i gocên • response to morphine • positive regulation of neuron apoptotic process • negative regulation of neurogenesis • response to methamphetamine hydrochloride • positive regulation of cell proliferation in midbrain • cellular response to glial cell derived neurotrophic factor • anatomical structure morphogenesis Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5309	n/a
Ensembl	n/a	n/a
UniProt	O75364	n/a
RefSeq (mRNA)	NM_005029	n/a
RefSeq (protein)	NP_005020	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PITX3 yw PITX3 a elwir hefyd yn Paired like homeodomain 3 (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 10, band 10q24.32.^[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 PITX3.

• ASMD
• ASOD
• PTX3
• ASGD1
• CTPP4
• CTRCT11

Llyfryddiaeth

• "Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. ". Orphanet J Rare Dis. 2014. PMID 24555714.
• "PITX3 and risk for Parkinson's disease: a systematic review and meta-analysis. ". Eur Neurol. 2014. PMID 24525476.
• "Whole Exome Sequencing Identifies a Novel Mutation in the PITX3Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family. ". Ann Clin Lab Sci. 2017. PMID 28249924.
• "PITX3DNA methylation is an independent predictor of overall survival in patients with head and neck squamous cell carcinoma. ". Clin Epigenetics. 2017. PMID 28174607.
• "Genetic analysis of PITX3 variants in patients with essential tremor.". Acta Neurol Scand. 2017. PMID 27145793.

Cyfeiriadau

1. "Human PubMed Reference:".
2. PITX3 - Cronfa NCBI