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Gene : CHAT Homo sapiens

Name  ? choline O-acetyltransferase Cytological Location  10q11.23
Brief Description  choline O-acetyltransferase
Description  This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]
  • synonyms:
  • OTTHUMG00000018198,
  • HGNC:1912,
  • CMS6,
  • uc001jhz.2,
  • CHOACTASE,
  • CHAT,
  • AF305907,
  • NM_020549,
  • CMS1A,
  • choline acetyltransferase,
  • CMS1A2
  • identifiers:
  • 1103,
  • ENSG00000070748,
  • CHAT

Genome feature

Region: gene ? Length: 56010  
Location: 10:49609095-49665104 Cyto location: 10q11.23


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

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Other

0 SN Ps

5 Cross References

18 Data Sets

12 Homologues

0 Located Features

97 Rna Seq Results