CHAT - choline O-acetyltransferase Gene
Also Known as CMS6; CMS1A; CMS1A2; CHOACTASE
Species: Homo sapiens
About CHAT
This gene has 12 transcripts (splice variants), 254 orthologues, 6 paralogues and is associated with 2 phenotypes. Biased expression in placenta (RPKM 2.7), small intestine (RPKM 0.2) and 1 other tissue.
Summary
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]
CHAT Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001142929.2 | NP_001136401.2 | choline O-acetyltransferase isoform 1 |
| NM_001142933.2 | NP_001136405.2 | choline O-acetyltransferase isoform 3 |
| NM_001142934.2 | NP_001136406.2 | choline O-acetyltransferase isoform 1 |
| NM_020549.5 | NP_065574.4 | choline O-acetyltransferase isoform 2 |
| NM_020984.4 | NP_066264.4 | choline O-acetyltransferase isoform 1 |
| NM_020985.4 | NP_066265.4 | choline O-acetyltransferase isoform 1 |
| NM_020986.4 | NP_066266.4 | choline O-acetyltransferase isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
CHAT Protein Structure
Carn_acyltransf: Choline/Carnitine o-acyltransferase (131 - 720)
- 0
- 200
- 400
- 600
- 748 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
choline O-acetyltransferase |
|
CHAT Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810601 | Choline Acetyltransferase Antibody (YA9864) | WB, IHC-F | Human, Mouse, Rat |
| HY-P810602 | Choline Acetyltransferase Antibody (YA9865) | WB, IP, ICC/IF, FC | Human, Mouse, Rat |
| HY-P81100 | ChAT Antibody | WB, IHC-P, ICC/IF, IP, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
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| Respiratory Failure |
|
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| Gastroesophageal Reflux |
|
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| Aspiration Pneumonia |
|
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| Apnea, Central Sleep |
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| Presynaptic Congenital Myasthenic Syndromes |
|
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| Febrile Seizures |
|
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| Lactic Acidosis |
|
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| Mild Cognitive Impairment |
|
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| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
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| Congenital Myasthenic Syndrome |
|
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| Congenital Myasthenic Syndrome Associated With Acetylcholine Receptor Deficiency |
|
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| Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency |
|
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| Amnestic Disorder |
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| Vascular Dementia |
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| Senile Plaque Formation |
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| Sudden Infant Death Syndrome |
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| Dementia |
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| Ocular Dominance |
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| Rett Syndrome |
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| Megacolon |
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| Pick Disease Of Brain |
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| Achalasia |
|
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| Motor Neuron Disease |
|
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| Supranuclear Palsy, Progressive, 1 |
|
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| Thiamine Deficiency Disease |
|
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| Constipation |
|
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| Wernicke-Korsakoff Syndrome |
|
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| Alzheimer Disease, Familial, 1 |
|
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| Down Syndrome |
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| Riboflavin Deficiency |
|
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| Sigmoid Disease |
|
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| Amyotrophic Lateral Sclerosis 1 |
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| Ptosis |
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| Multiple System Atrophy 1 |
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| Huntington Disease |
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| Neuromuscular Junction Disease |
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| Capgras Syndrome |
|
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| Cataract 38 |
|
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| Parkinson Disease, Late-Onset |
|
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| Myasthenic Syndrome, Congenital, 5 |
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| Spinal Muscular Atrophy |
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| Central Nervous System Disease |
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| Schizophrenia |
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| Dementia, Lewy Body |
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| Neuroblastoma |
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| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
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| Ewing Sarcoma |
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| Neuromuscular Disease |
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| Stroke, Ischemic |
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| Hirschsprung Disease 1 |
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| Peripheral Nervous System Disease |
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| Nervous System Disease |
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