Gene: [22q112/COMTE] catechol-O-methyltransferase activity, low (in red cell); [COMT ]

COM

HGM and MIM consider this marker as the structural gene for catechol-O-methyltransferase (EC:2.1.1.6). However, according to literature data, it is a tentative factor regulating the enzyme activity in red blood cells."

REF

LOC,CYG "Brahe C &: Hum Genet, 74, 230-234, 1986
FUN,FOG "Floderus &: Hum Hered, 32, 76-79, 1982
FUN,FOG "Floderus, Wetterberg: Clin Genet, 19, 392-395, 1981
FUN,FOG "Scanlon &: Science, 203, 63-65, 1979
FUN,FOG "Siervogel &: Am J Med Genet, 19, 315-323, 1984
FUN,FOG "Spielman, Weinshilboum: Am J Med Genet, 10, 279-290, 1981
FUN,FOG "Weinshilboum, Dunnette: Clin Genet, 19, 426-437, 1981
FUN,FOG "Weinshilboum, Raymond: AJHG, 29, 125-135, 1977
LOC,LIN "Wilson AF &: Am J Med Genet, 19, 525-532, 1984

KEY

neu

CLA

coding, basic

LOC

22 q11.2

MIM

MIM: 116790

SYN

COMT