Gene: [03q252/CHE1] butyrylcholinesterase (cholinesterase 1, serum); acylcholin acylhydrolase (serum cholinesterase 1); pseudocholinesterase deficiency (suxamethonium sensitivity);


COM

[1] Previously (HGM9.5) it was assumed that a CHE-like gene 2 (CHEL2) is located in region 3q26. However, the gene CHEL2 was excluded from the HGM10 catalogue as being identical to the CHE1, on the basis of data of Soreq-1989.
[2] CCM92 indicates another regional localization for gene CHE1(BCHE): 03q26."

FUN

[1] Differences in enzymatic activity between isoforms are determined by four major alleles: 'normal' (Eu), 'atypic' (Ea). 'fluoride-resistant' (Ef) and 'silent' (Es). The latter (silent allele) in homozygous state determines the complete loss of the enzyme activity, while Ea and Ef alleles causes only a partial decrease in the activity. As a result, a wide and almost continuous variability of levels of BCHE activity occurs, which is determined by multiple combinations of these four alleles (homozygotes and compound heterozygotes, 10 genotypic combinations in total).
[2] The reaction catalyzed: an acylcholine + H(2)O = choline + a carboxylic acid anion."

MOP

Several forms of butiryl cholinesterase (BCHE) are known; they are encoded by alleleic variants of the structural gene CHE1."

PAT

Hypo- and acholinesterasemia manifest themselves as a paralysis of muscles with a prolonged delay or the complete arrest of respiration, after finishing the surgical operation under the intubation anesthesia with the use of myorelaxation drugs. The phenomenon was originally described after the beginning of the use of suxamethonium in the anesthesiology. In normal conditions, individuals with decreased BCHE activity, as well as with its complete loss, are quite healthy. Sometimes hypocholinesterasemia occurs as a phenocopy because of a number of chronic pathological processes (e.g., in some liver diseases). It may be a cause for the age-dependent individual variability of BCHE activity."

POP

In European populations, the frequency of individuals with substantially decreased enzyme activity does not exceed 1:2000. Among Eskimoes of Alaska, because of the high frequency of the silent allele, 1-2% of individuals manifest the complete loss of BCHE activity, and 25% (Eu Es heterozygotes) exhibit 70% of the activity as compared to normal homozygotes (EuEu), Ea allele being almost completely absent. In addition, extremely rare variants Ej and Ek have been reported (Whittaker,Britten-1989)."

FAG

[1] Two CHE-like sequences, one of them being also located in chromosome 3q, have been found (GEM:03q21/CHEL1, GEM:16q/CHEL3), which functions are yet unknown. It is possible that they are processed pseudogenes. The existence of locus CHEL2 with 3q26 localization is not confirmed (see Commentary).
[2] It is assumed that a peptide component C5 (denoted by the number of a specified band in the starch gel) interacts with one of the butiryl cholinesterase (BCHE) subunits to form variant E(2) of BCHE. The gene for C5 peptide have been mapped in chromosome 2q3 (GEM:02q3/CHE2).
[3] Several types of cholinesterase exist, differing in the substrate specificity. So called 'true' cholinesterase (CHE), or acetyl CHE (EC 3.1.1.7; GEM:07q22/ACHE), hydrolyzes only acetylcholine, whereas serum pseudo-CHE (or butyryl cholinesterase) has more wide specificity: it hydrolyzes also butyryl choline and some other choline derivatives."

REF

PAT,FOG,POP "Gutsche &: Nature, 215, 322-323, 1967
REV,PAT,FOG "Harris H: (in) Principles of human biochemical genetics, 1970
PAT,FOG,POP "Hodgkin &: J Clin Invest, 44, 486-493, 1965
PEP,SEQ,PRO "La Du, Lockridge O: Fed Proc, 45, N13, 2965-2969, 1986
PEP,SEQ,EXP,MOP "Lockridge O &: JBC, 262, 549-557, 1987
PAT,FOG,POP "Lubin &: Science, 173, 161-164, 1971
MUT,MOL,LOC "McGuire MC &: PNAS, 86, N2, 953-957, 1989
PRO,SEQ,EXP "McTiernan C &: PNAS, 84, N19, 6682-6686, 1987
MUT,MOL,LOC "Prody CA &: PNAS, 86, N2, 690-694, 1989
PRO,SEQ,EXP "Prody CA &: PNAS, 84, N11, 3555-3559, 1987
PAT,FOG,POP "Propert D: Brit J Psychiat, 134, 477-481, 1979
PAT,FOG,POP "Rubinstein &: J Clin Invest, 49, 479-486, 1970
PAT,FOG,POP "Scott, Wright: AJHG, 28, 253-256, 1976
PAT,FOG,POP "Scott &: AJHG, 22, 363-369, 1970
PAT,FOG,POP "Simpson, Elliott: AJHG, 33, 366-374, 1981
LOC,MOL,FAG,EXP "Soreq H &: CCG, 51, (HGM10), 1083, 1989
LOC,MOL,FAG,EXP "Soreq H &: Hum Genet, 77, 325-328, 1987a
EXP,CYG "Soreq H &: Hum Reprod, 2, N8, 689-693, 1987b
PAT,FOG,POP "Whittaker, Britten: Hum Hered, 39, N1, 1-6, 1989

KEY

neu, hem, serp, xen, sign

CLA

coding, basic

LOC

03 q25.2

MIM

MIM: 177400

EZN

ENZYME: 3.1.1.8

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