Butyrylcholinesterase

Alternative Names

  • BCHE
  • Pseudocholinesterase E1
  • CHE1
  • Acylcholine Acylhydrolase
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OMIM Number

177400

NCBI Gene ID

590

Uniprot ID

P06276

Length

64,520 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Cholinesterase

Molecular Mass

68418 Da

Amino Acid Count

602

Genomic Location

chr3:165,772,903-165,837,422

Gene Map Locus
3q26.1

Description

This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000055.4:c.293A>GUnited Arab EmiratesNC_000003.12:g.165830741T>CLikely Pathogenic, PathogenicPathogenicButyrylcholinesterase DeficiencyNG_009031.1:g.11725A>G; NM_000055.4:c.293A>G; NP_000046.1:p.Asp98Gly179980713215
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