Gene:
ACHE
acetylcholinesterase (Yt blood group)
PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.
PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.
Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.
The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.
The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
List of all variant annotations for ACHE
|
Variant?
(147) |
Alternate Names ? | Chemicals ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs2571598 | NC_000007.13:g.100489639C>T, NC_000007.14:g.100892018C>T, NG_007474.1:g.8903G>A, NM_000665.4:c.1553+316G>A, NM_001282449.1:c.1289+316G>A, NM_001302621.1:c.1553+316G>A, NM_001302622.1:c.1553+316G>A, NM_015831.2:c.1553+316G>A, XM_005250357.1:c.1553+316G>A, XM_005250358.1:c.1553+316G>A, XM_005250359.1:c.1289+316G>A, XM_006715995.2:c.1553+316G>A, XM_011516225.1:c.2051+316G>A, XM_011516226.1:c.1787+316G>A, XM_011516227.1:c.1553+316G>A, XM_011516228.1:c.1553+316G>A, XM_011516229.1:c.1553+316G>A, XR_927464.1:n.1924+316G>A, XR_927465.1:n.1615-680G>A, rs17880361, rs57627110 |
C > T
|
SNP | |||
| rs6942609 | NC_000007.13:g.100895480G>A, NC_000007.14:g.101252199G>A, rs60593497 |
G > A
|
SNP |
Overview
| Alternate Names: | YT; Yt blood group |
|---|---|
| Alternate Symbols: | None |
| PharmGKB Accession Id: | PA20 |
Details
| Cytogenetic Location: | chr7 : q22.1 - q22.1 |
|---|---|
| GP mRNA Boundary†: | chr7 : 100487615 - 100493754 |
| GP Gene Boundary†: | chr7 : 100484615 - 100503754 |
| Strand: | minus |
Visualization
UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.
View on UCSC BrowserPharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
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Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)
Simplified diagram of a sympathetic neuronal junction displaying genes involved in neurotransmitter biosynthesis in response to neuronal stimulation.
Publications related to ACHE: 5
Association of the choline acetyltransferase gene with responsiveness to acetylcholinesterase inhibitors in Alzheimer's disease. Pharmacopsychiatry. 2015. Yoon H, et al.
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| 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. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2009. Scacchi Renato, et al.
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Regulation of nicotinic acetylcholine receptor channel function by acetylcholinesterase inhibitors in rat hippocampal CA1 interneurons. Molecular pharmacology. 2004. Fayuk Dmitriy, et al.
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Clinical pharmacokinetics of galantamine. Clinical pharmacokinetics. 2003. Farlow Martin R.
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Galantamine--a novel cholinergic drug with a unique dual mode of action for the treatment of patients with Alzheimer's disease. CNS drug reviews. 2002. Lilienfeld Sean.
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LinkOuts
- UniProtKB:
- ACES_HUMAN (P22303)
- Ensembl:
- ENSG00000087085
- GenAtlas:
- ACHE
- GeneCard:
- ACHE
- MutDB:
- ACHE
- ALFRED:
- LO110029N