CHAT

CHAT
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2FY2, 2FY3, 2FY4, 2FY5
Dynodwyr
Cyfenwau	CHAT, CHOACTASE, CMS1A, CMS1A2, CMS6, choline O-acetyltransferase
Dynodwyr allanol	OMIM: 118490 HomoloGene: 40693 GeneCards: CHAT
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • acyltransferase activity • choline O-acetyltransferase activity Cydrannau o'r gell • cytoplasm • cytosol • cnewyllyn cell • presynapse • neuron projection Prosesau biolegol • neurotransmitter biosynthetic process • phosphatidylcholine biosynthetic process • GO:0010554 neurotransmitter secretion • neuromuscular synaptic transmission • acetylcholine biosynthetic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1103	n/a
Ensembl	ENSG00000070748	n/a
UniProt	P28329	n/a
RefSeq (mRNA)	NM_020986 NM_001142929 NM_001142933 NM_001142934 NM_020549 NM_020984 NM_020985	n/a
RefSeq (protein)	NP_001136401 NP_001136405 NP_001136406 NP_065574 NP_066264 NP_066265 NP_066266	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 CHAT yw CHAT a elwir hefyd yn Choline O-acetyltransferase (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 dynol 10, band 10q11.23.

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 CHAT.

• CMS6
• CMS1A
• CMS1A2
• CHOACTASE

Llyfryddiaeth

• "Genetic Association of CHAT rs3810950 and rs2177369 Polymorphisms with the Risk of Alzheimer's Disease: A Meta-Analysis. ". Biomed Res Int. 2016. PMID 27597977.
• "Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer's Disease Risk: A Meta-Analysis. ". PLoS One. 2016. PMID 27390868.
• "Polymorphic variation in CHAT gene modulates general cognitive ability: An association study with random student cohort. ". Neurosci Lett. 2016. PMID 26854842.
• "Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family. ". Muscle Nerve. 2016. PMID 26789281.
• "Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.". Hum Mutat. 2015. PMID 26080897.