CHAT
GeneName
CHAT
Summary
CHAT, also known as choline acetyltransferase, is an enzyme with a mass of 83 kDa that is primarily expressed in neurons. It is located in the cytoplasm, nucleus, and synapses, where it plays a vital role in the biosynthesis of the neurotransmitter acetylcholine from acetyl-CoA and choline. This process is essential for neuromuscular synaptic transmission and neurotransmitter transport, contributing to communication between nerve cells and muscle fibres. Additionally, CHAT is involved in the phosphatidylcholine biosynthetic process, which is important for maintaining cell membrane integrity.
Importance
CHAT is relevant to: - Neurodegenerative diseases, such as Alzheimer’s, where acetylcholine depletion is a hallmark of the pathology - Neuromuscular disorders, as it directly influences muscle contraction through acetylcholine availability - Research into synaptic plasticity and cognitive function, given its role in neurotransmitter synthesis - Studies on cholinergic signaling pathways, which are crucial for understanding various physiological and pathological processes
Top Products
For researchers investigating CHAT, we highly recommend the top-selling recombinant antibody, Anti-Choline Acetyltransferase antibody [EPR13024(B)] (ab181023). This antibody has been validated in a variety of applications, including immunohistochemistry (IHC), immunocytochemistry (ICC), western blotting (WB), flow cytometry (FC), and immunoprecipitation (IP), making it an excellent choice for diverse experimental needs. With 46 citations, it is well-regarded in the research community, reflecting its reliability and effectiveness in detecting Choline Acetyltransferase. This product offers the batch-to-batch consistency that researchers value in their studies.
Abcam Product Citation Summary
The data indicates that CHAT antibodies from Abcam have been utilised in various studies focusing on the mouse prefrontal cortex and rat motor neurons. The applications primarily involve Western Blotting and Immunohistochemistry- Immunofluorescence, highlighting the relevance of CHAT in neurological research, particularly in the context of anaesthesia, surgery, and motor neuron studies.
Abcam Product Citation Table
Function
Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
Involvement in disease
Myasthenic syndrome, congenital, 6, presynaptic
CMS6
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the carnitine/choline acetyltransferase family.
Alternative names
Choline O-acetyltransferase, CHOACTase, ChAT, Choline acetylase, CHAT