CHAT

CHAT
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauCHAT, CHOACTASE, CMS1A, CMS1A2, CMS6, choline O-acetyltransferase
Dynodwyr allanolOMIM: 118490 HomoloGene: 40693 GeneCards: CHAT
EC number2.3.1.6
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

1103

n/a

Ensembl

ENSG00000070748

n/a

UniProt

P28329

n/a

RefSeq (mRNA)

n/a

RefSeq (protein)

n/a

Lleoliad (UCSC)n/an/a
PubMed search[1]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.[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 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.

Cyfeiriadau

  1. ↑ "Human PubMed Reference:".
  2. ↑ CHAT - Cronfa NCBI

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