QuickView for CMS1A2 (gene)

Gene Symbol:

CHAT Homo sapiens

Full name:

choline O-acetyltransferase

Synonyms:

CHOACTASE, CMS1A, CMS1A2, CMS6, choline O-acetyltransferase, acetyl CoA:choline O-acetyltransferase, choline acetylase

Genomic Location:

Chr 10: 50487147-50543156

Description:

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 im...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

YATGNWAAT_OCT_C ,  GR_Q6_01 ,  PBX1_01 ,  TGACCTY_ERR1_Q2 ,  NRSF_01 ,  GGGAGGRR_MAZ_Q6 ,  TAL1BETAE47_01 ,  CAGGTG_E12_Q6 ,  SP1_Q4_01 ,  GR_Q6 ,  AP2_Q6_01 ,  CAGNWMCNNNGAC_UNKNOWN ,  GGGCGGR_SP1_Q6 ,  CCCNNGGGAR_OLF1_01 ,  CTTTAAR_UNKNOWN ,  GCM_Q2 ,  TGCCAAR_NF1_Q6 ,  SP1_Q6 ,  POU3F2_02 ,  CEBP_C ,  CAGCTG_AP4_Q5 ,  SP1_Q6_01 ,  ER_Q6 ,  TGACCTTG_SF1_Q6 ,  SP1_Q2_01 ,  ETF_Q6 ,  SF1_Q6 ,  LBP1_Q6

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Cytogenetic Map:

10q11.23

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