CHAT Gene (Protein Coding)

Choline O-Acetyltransferase

GC10P049609
GIFtS:
47
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 ge... See more...

Aliases for CHAT Gene

Aliases for CHAT Gene

  • Choline O-Acetyltransferase 2 3 4 5
  • Choline Acetylase 3 4
  • EC 2.3.1.6 4 51
  • Acetyl CoA:Choline O-Acetyltransferase 3
  • Choline Acetyltransferase 2
  • CHOACTASE 3
  • CHOACTase 4
  • EC 2.3.1 51
  • CMS1A2 3
  • CMS1A 3
  • CMS6 3
  • CHAT 5
  • ChAT 4

External Ids for CHAT Gene

Previous GeneCards Identifiers for CHAT Gene

  • GC10P049721
  • GC10P050709
  • GC10P050161
  • GC10P050487
  • GC10P050817
  • GC10P045081

Summaries for CHAT Gene

Entrez Gene Summary for CHAT Gene

  • 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]

GeneCards Summary for CHAT Gene

CHAT (Choline O-Acetyltransferase) is a Protein Coding gene. Diseases associated with CHAT include Myasthenic Syndrome, Congenital, 6, Presynaptic and Aspiration Pneumonia. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and choline O-acetyltransferase activity. An important paralog of this gene is CRAT.

UniProtKB/Swiss-Prot Summary for CHAT Gene

  • Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.

Gene Wiki entry for CHAT Gene

Additional gene information for CHAT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHAT Gene

Genomics for CHAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CHAT Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J049610 Promoter 1.1 EPDnew Ensembl 600.7 +1.1 1106 0.8 PRDM10 ZIC2 EZH2 SP2 ZBTB48 ZBTB26 ZBTB17 ZFHX2 POLR2A ZNF335 CHAT NONHSAG005873.2 SLC18A3 ERCC6
GH10J049612 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 600.7 +4.2 4215 1 CTCF KDM1A EZH2 KLF9 SP2 KLF1 RAD21 GLIS2 CHAT NONHSAG005873.2 SLC18A3 piR-35674-048 C10orf53
GH10J049608 Promoter 0.4 EPDnew 600.7 -0.1 -70 0.1 EZH2 CHAT NONHSAG005873.2 SLC18A3 piR-50437-050 ERCC6
GH10J049645 Enhancer 0.5 Ensembl 12.1 +36.8 36805 1.4 ZIC2 MNT SPI1 RAD21 MYC MAX CTCF SLC18A3 CHAT piR-35674-048 C10orf53
GH10J049567 Enhancer 1.1 FANTOM5 Ensembl ENCODE 5.6 -40.3 -40331 2.5 CREB1 RELA CEBPB RUNX3 FOS CHD2 JUN RCOR1 TCF12 JUND ERCC6 SLC18A3 CHAT PGBD3 lnc-CHAT-1 HMGB1P50 piR-50437-050
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHAT

Top Transcription factor binding sites by QIAGEN in the CHAT gene promoter:
  • NRSF form 1
  • NRSF form 2

Genomic Locations for CHAT Gene

Genomic Locations for CHAT Gene
chr10:49,609,095-49,667,942
(GRCh38/hg38)
Size:
58,848 bases
Orientation:
Plus strand
chr10:50,817,141-50,901,925
(GRCh37/hg19)
Size:
84,785 bases
Orientation:
Plus strand

Genomic View for CHAT Gene

Genes around CHAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHAT Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHAT Gene

Proteins for CHAT Gene

Products:

  1. Antibody
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  3. Assay

  • Protein details for CHAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28329-CLAT_HUMAN
    Recommended name:
    Choline O-acetyltransferase
    Protein Accession:
    P28329
    Secondary Accessions:
    • A2BDF4
    • A2BDF5
    • Q16488
    • Q9BQ23
    • Q9BQ35
    • Q9BQE1

    Protein attributes for CHAT Gene

    Size:
    748 amino acids
    Molecular mass:
    82536 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CHAT Gene

    Alternative splice isoforms for CHAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHAT Gene

Protein Expression for CHAT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CHAT Gene

P28329:
  • TPEALAFV
  • INFRRLSEGDLFTQLRKI
  • YGKTFIK
  • SELPAPRRLRWKCSP
  • LPVPPLQQ
  • KDSTNRDSLDMIERC
  • ALQLLHGGG
  • LISGVLSYK
  • GRVDNIR
  • LASSAEKLQ
  • RLVPTYESASIRRF
  • DMYLNNRLALPVNSSP
  • QFVVGRDG

Post-translational modifications for CHAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHAT Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for CHAT Gene

Gene Families for CHAT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CHAT Gene

InterPro:
Blocks:
  • Acyltransferase ChoActase/COT/CPT
ProtoNet:

Suggested Antigen Peptide Sequences for CHAT Gene

GenScript: Design optimal peptide antigens:
  • CHAT protein (A2BDF5_HUMAN)
  • Choline O-acetyltransferase (CLAT_HUMAN)
  • Choline acetyltransferase, isoform CRA_a (D3DX95_HUMAN)
  • Choline acetyltransferase (Q6LEN5_HUMAN)
  • Choline acetyltransferase (Q6LEN6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28329

UniProtKB/Swiss-Prot:

CLAT_HUMAN :
  • Belongs to the carnitine/choline acetyltransferase family.
Family:
  • Belongs to the carnitine/choline acetyltransferase family.
genes like me logo Genes that share domains with CHAT: view

Function for CHAT Gene

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  1. Animal Model
  2. CRISPR
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Molecular function for CHAT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + choline = acetylcholine + CoA; Xref=Rhea:RHEA:18821, ChEBI:CHEBI:15354, ChEBI:CHEBI:15355, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.6; Evidence={ECO:0000269|PubMed:17144655};.
GENATLAS Biochemistry:
choline acetyltransferase neurotransmitter acetylcholine catalyzing enzyme synthesis,expressed in the brain and spinal cord

Enzyme Numbers (IUBMB) for CHAT Gene

Phenotypes From GWAS Catalog for CHAT Gene

Gene Ontology (GO) - Molecular Function for CHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004102 choline O-acetyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with CHAT: view
genes like me logo Genes that share phenotypes with CHAT: view

Human Phenotype Ontology for CHAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHAT Gene

MGI Knock Outs for CHAT:

Animal Model Products

CRISPR Products

miRNA for CHAT Gene

miRTarBase miRNAs that target CHAT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHAT

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CHAT Gene

Localization for CHAT Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHAT gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 3
cytoskeleton 3
peroxisome 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10861222
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005829 cytosol TAS --
GO:0043005 neuron projection IBA 21873635
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with CHAT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CHAT Gene

Pathways & Interactions for CHAT Gene

genes like me logo Genes that share pathways with CHAT: view

SIGNOR curated interactions for CHAT Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007274 neuromuscular synaptic transmission IBA 21873635
GO:0008292 acetylcholine biosynthetic process IBA 21873635
GO:0042136 neurotransmitter biosynthetic process IEA --
genes like me logo Genes that share ontologies with CHAT: view

Drugs & Compounds for CHAT Gene

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  1. Drug

(62) Drugs for CHAT Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Enzyme, substrate 223
Donepezil Approved Pharma 317
Nicotine Approved Pharma Antagonist, Activator, Activation, Target, inhibitor 1518
Olanzapine Approved, Investigational Pharma Antagonist, Agonist, Full agonist, Inverse agonist 442
Acetylcholine Approved, Investigational Pharma Agonist, Full agonist 883

(46) Additional Compounds for CHAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
 72-89-9
genes like me logo Genes that share compounds with CHAT: view

Transcripts for CHAT Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CHAT Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHAT

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHAT Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP4:
SP5: -
SP6:

Relevant External Links for CHAT Gene

GeneLoc Exon Structure for
CHAT

Expression for CHAT Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHAT Gene

mRNA expression in normal human tissues for CHAT Gene
mRNA expression by GTEx for CHAT GenemRNA expression by BioGPS for CHAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHAT Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x16.6), Brain - Caudate (basal ganglia) (x15.3), and Brain - Nucleus accumbens (basal ganglia) (x6.1).

Protein differential expression in normal tissues from HIPED for CHAT Gene

This gene is overexpressed in Monocytes (34.9), Tlymphocyte (20.1), and Placenta (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHAT Gene



Protein tissue co-expression partners for CHAT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHAT

SOURCE GeneReport for Unigene cluster for CHAT Gene:

Hs.302002

Evidence on tissue expression from TISSUES for CHAT Gene

  • Nervous system(4.7)
  • Blood(4.5)
  • Eye(2.6)
  • Muscle(2.6)
  • Skin(2.4)
  • Intestine(2.3)
  • Adrenal gland(2.2)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHAT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CHAT: view

No data available for mRNA Expression by UniProt/SwissProt for CHAT Gene

Orthologs for CHAT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHAT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CHAT 30 31
  • 99.1 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CHAT 30 31
  • 88.37 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CHAT 30 31
  • 87.58 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Chat 30
  • 86.14 (n)
Mouse
(Mus musculus)
 Mammalia Chat 30 17 31
  • 85.98 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CHAT 31
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CHAT 31
  • 79 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CHAT 30 31
  • 72.26 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CHAT 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia chat 30
  • 67.19 (n)
Zebrafish
(Danio rerio)
 Actinopterygii chat 30 31
  • 64.78 (n)
 OneToMany
CHAT (2 of 2) 31
  • 58 (a)
 OneToMany
zgc64220 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002370 30
  • 52.94 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Cha 30 31 32
  • 52.59 (n)
 OneToOne
CG5122 32
  • 38 (a)
CG5265 32
  • 32 (a)
Worm
(Caenorhabditis elegans)
 Secernentea cha-1 30 31 32
  • 45.84 (n)
 OneToOne
B0395.3 32
  • 34 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CAT2 31
  • 28 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 47 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.14198 30
Species where no ortholog for CHAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CHAT Gene

ENSEMBL:
Gene Tree for CHAT (if available)
TreeFam:
Gene Tree for CHAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHAT: view image

Paralogs for CHAT Gene

Paralogs for CHAT Gene

(4) SIMAP similar genes for CHAT Gene using alignment to 5 proteins:

  • CLAT_HUMAN
  • A2BDF5_HUMAN
  • D3DX95_HUMAN
  • F8W8I2_HUMAN
  • R4GN13_HUMAN
genes like me logo Genes that share paralogs with CHAT: view

Variants for CHAT Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHAT Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
641659 Uncertain Significance: Familial infantile myasthenia 49,662,740(+) A/C MISSENSE_VARIANT
642070 Uncertain Significance: Familial infantile myasthenia 49,649,510(+) C/T MISSENSE_VARIANT
642200 Uncertain Significance: Familial infantile myasthenia 49,662,786(+) C/T INTRON_VARIANT
645424 Uncertain Significance: Familial infantile myasthenia 49,651,922(+) A/C MISSENSE_VARIANT
646702 Uncertain Significance: Familial infantile myasthenia 49,614,365(+) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CHAT Gene

Structural Variations from Database of Genomic Variants (DGV) for CHAT Gene

Variant ID Type Subtype PubMed ID
esv1348586 CNV insertion 17803354
nsv1042677 CNV loss 25217958
nsv1134007 CNV deletion 24896259
nsv1145454 CNV deletion 24896259
nsv510217 OTHER sequence alteration 20534489
nsv550819 CNV loss 21841781
nsv950954 CNV deletion 24416366

Variation tolerance for CHAT Gene

Residual Variation Intolerance Score: 97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.10; 87.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHAT Gene

Human Gene Mutation Database (HGMD)
CHAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHAT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHAT Gene

Disorders for CHAT Gene

MalaCards: The human disease database

(50) MalaCards diseases for CHAT Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 6, presynaptic
  • cms6
aspiration pneumonia
  • aspiration pneumonitis
central sleep apnea
  • central sleep apnea syndrome
gastroesophageal reflux
  • ger
apnea, central sleep
- elite association - COSMIC cancer census association via MalaCards
Search CHAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLAT_HUMAN
  • Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive. {ECO:0000269 PubMed:11172068, ECO:0000269 PubMed:12756141}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CHAT: view

No data available for Genatlas for CHAT Gene

Publications for CHAT Gene

  1. Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine. (PMID: 18780301) Scacchi R … Corbo RM (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 23 41
  2. Alzheimer's disease: case-control association study of polymorphisms in ACHE, CHAT, and BCHE genes in a Sardinian sample. (PMID: 17503475) Piccardi M … Del Zompo M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 23 41
  3. Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response. (PMID: 17503482) Mancama D … Arranz MJ (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 23 41
  4. Substrate binding and catalytic mechanism of human choline acetyltransferase. (PMID: 17144655) Kim AR … Shilton BH (Biochemistry 2006) 3 4 23
  5. A single nucleotide polymorphism in CHAT influences response to acetylcholinesterase inhibitors in Alzheimer's disease. (PMID: 16424819) Harold D … Jones L (Pharmacogenetics and genomics 2006) 3 23 41

ExternalLinks

View latest publications for CHAT gene in Mastermind

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