CHAT

GENE INFORMATION

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Gene name

CHAT

Synonyms

Description

choline O-acetyltransferase (HGNC Symbol)

Entrez gene 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]

Chromosome

10 (Chromosome progress)

Cytoband

q11.23

Chromosome location (bp)

50817141 - 50901925

Ensembl

ENSG00000070748 (version 73.37)

Entrez gene

1103

UniProt

P28329 (UniProt - Evidence at protein level)

neXtProt

NX_P28329

Antibodypedia

CHAT antibodies
 

PROTEIN VIEW

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CHAT-001
 
CHAT-002
 
CHAT-007
 
CHAT-201
 
CHAT-202
 
CHAT-203
 
CHAT-204
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHAT-001 ENSP00000337103
ENST00000337653
P28329
Show all »
Show » Show » 748 82.5 No 0
CHAT-002 ENSP00000473443
ENST00000466590
R4GN13
Show all »
112 11.7 No 0
CHAT-007 ENSP00000343486
ENST00000339797
P28329
Show all »
Show » Show » 630 70.4 No 0
CHAT-201 ENSP00000345878
ENST00000351556
P28329
Show all »
Show » Show » 630 70.4 No 0
CHAT-202 ENSP00000378926
ENST00000395559
P28329
Show all »
Show » Show » 630 70.4 No 0
CHAT-203 ENSP00000378929
ENST00000395562
P28329
Show all »
Show » Show » 666 74.4 No 0
CHAT-204 ENSP00000390521
ENST00000455728
F8W8I2
Show all »
Show » 545 61.2 No 0