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CHAT Gene – GeneCards | CLAT Protein | CLAT Antibody
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This gene encodes a chemical which catalyzes the biosynthesis of this neurotransmitter acetylcholine. This gene product is a characteristic function of cholinergic neurons, and alterations in these neurons may clarify a few of the the signs of Alzheimer’s disease. Polymorphisms in this gene have already been involving Alzheimer’s illness and mild cognitive disability.

Mutations in this gene are related to congenital myasthenic problem connected with episodic apnea. Multiple transcript variants encoding different isoforms were discovered for this gene, plus some of those alternatives have been proven to encode multiple isoform.

Among its related paths are Neurotransmitter launch Cycle and Metabolism. Gene Ontology GO annotations pertaining to this gene include transferase activity, transferring acyl groups and choline O-acetyltransferase task. An essential paralog of the gene is CRAT. Genes Individuals. Jump to section. Antibodies Assays Proteins Inhib. Mutations in this ge See more Catalyzes the reversible synthesis of acetylcholine ACh from acetyl CoA and choline at cholinergic synapses.

Abcam antibodies for CHAT. Biorbyt antibodies for CHAT. Abcam proteins for CHAT. Browse Sino Biological Assays. Genes that share domains with CHAT: view. Genes that share ontologies with CHAT: view. Genes that share phenotypes with CHAT: view. Browse GeneCopoeia Cell Lines. Compartment esteem nucleus 5 cytosol 4 plasma membrane layer 3 cytoskeleton 3 peroxisome 3 extracellular 2 mitochondrion 2 endoplasmic reticulum 2 endosome 1 lysosome 1 golgi device 1.

Glycerophospholipid biosynthesis. Phospholipid metabolism. Glycerophospholipid metabolic process. Neurotransmitter Launch Cycle. Acetylcholine Neurotransmitter Production Cycle. Metabolic rate of lipids and lipoproteins. Transmission across Chemical Synapses. Neuronal System. Cholinergic synapse. Genes that share pathways with CHAT: view.

Cholinergic synapse Glycerophospholipid metabolism. Genes that share substances with CHAT: view. Browse compounds at ApexBio. This gene is overexpressed in mind – Putamen basal ganglia x This gene is overexpressed in Monocytes Show more. Neurological system 4.

Germ levels: ectoderm endoderm mesoderm. Systems: digestive immune integumentary nervous respiratory skeletal muscle skeleton. Regions: Head and neck: mind cranial nerve eye eyelid face head jaw larynx mandible maxilla mouth neck nostrils pharynx skull tongue vocal cord.

Thorax: upper body wall diaphragm esophagus lung rib rib cage sternum. Abdomen: tummy. Limb: ankle digit elbow finger foot hand hip knee lower limb shoulder toe upper limb wrist. General: bloodstream peripheral nerve peripheral nervous system skin spinal cord white bloodstream mobile.

Genes that share phrase habits with CHAT: view. This gene was present in the common ancestor of pets and fungi.

Genes that share paralogs with CHAT: view. All outcome types are included: molecular effects e. Residual Variation Intolerance Score : Gene Damage Index Score : 9.

Myasthenic problem, congenital, 6, presynaptic CMS6 [MIM]: a type of congenital myasthenic problem, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic problems that aren’t of autoimmune source. Clinical features are easy fatigability and muscle mass weakness affecting the axial and limb muscles with hypotonia in early-onset types , the ocular muscles resulting in ptosis and ophthalmoplegia , plus the facial and bulbar musculature affecting drawing and ingesting, and leading to dysphonia.

The outward symptoms fluctuate and worsen with hard physical work. CMS6 individuals have myasthenic symptoms since beginning or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with an increase of weakness, bulbar paralysis, and apnea precipitated by excessive exertion, fever, or pleasure.

CMS6 inheritance is autosomal recessive. Genes that share disorders with CHAT: view. High Quality Products:. EPDnew Ensembl. Circadian entrainment. ENSP 20 P ENSP 20 Q MalaCards Medline Plus.

CHAT 29 Chat Chat 29 16 CHAT CHAT 2 of 2 Cha 29 30 CG CAT2