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 |
