Gene: [02q3/CHE2] cholinesterase 2 (serum; C5 band; pseudocholinesterase 2);


FUN

Allele '+' of CHE2 locus determines the synthesis of C5 isoenzyme (which can be observed as a specified additional electrophoretic band. It increases the total level of pseudocholinesterase activity (CHE1 or BCHE) by 25% on the average, while allele '-' seems to be functionally inactive."

HIS

Data on the mapping of this marker have been remaining contraversial for a long time. Early data on the linkage with the haptoglobin locus in chr 16 (Lovrien-1978) were disproved by Eiberg-1982 and Field-1982. Soreq-1987, using two partialy overlapping cDNA probes (CHE1), found two definite localizations for these sequences (CHE1 in chr 3 and CHE2 in chr 16) by the method of in situ hybridization on chromosomes. Later Eiberg-1989 demonstrated, on the basis of linkage analysis in families, that CHE2 is located close to the gamma crystallin gene cluster in chromosome 2q. The HGM and CCM92 catalogues took these data as a background. The GEM catalogue have taken this change into account, however (in contrast to the MIM and HGM catalogues) have reserved a pseudogene CHE1P in chr 16."

POP

Component C5(+) is found, on the average, in only 10% of population in Europe, USA, and some other regions."

FAG

See GEM:03q252/CHE1.

REF

LOC,CYG,LIN,MOL,POP "Eiberg H &: CCG, 51, (HGM10), 994, 1989a
LOC,CYG,LIN,MOL,POP "Eiberg H &: Clin Genet, 35, 313-321, 1989b
LOC,CYG,LIN,MOL,POP "Eiberg H, Mohr: CCG, 32, (HGM6), 270, 1982
LOC,CYG,LIN,MOL,POP "Field &: CCG, 32, (HGM6), 275-276, 1982
REV,FOG,POP,FUN "Harris H: (in) Principles of human biochemical genetics, 1970
LOC,CYG,LIN,MOL,POP "Lovrien EW &: CCG, 22, (HGM4), 324-326, 1978
LOC,CYG,LIN,MOL,POP "Soreq H &: Hum Genet, 77, 325-328, 1987

KEY

hem, serp, neu, sign

CLA

coding, basic

LOC

02 q33-35

MIM

MIM: 177500

EZN

ENZYME: 3.1.1.8

鸯铗痂蝈 蜞赕:

  • Gene: [16q/CHEL3] butyrylcholinesterase (cholinesterase 1, serum)-like 3; [BCHEL3 ]