Gene: [17q2/MPO] myeloperoxidase; myeloperoxidase deficiency;
|
FUN |
[1] Lysosomal myeloperoxidase (MPO) is accumulated in azurophilic
granules during differentiation of promyelocytes. It represents one of
the main components of so called MPO-peroxide-haloid system, on which
the bactericidal activity of polymorphic nuclear leucocytes is based
(Nauseef-1989).
[2] Recently an MPO isoform was found that is located in the cell nucleus, in tight association with DNA. This enzyme possibly protects DNA from the genotoxic effects of peroxide compounds, large amounts of which are produced during leucocyte differentiation (Murao-1988)." |
|
PAT |
[1] Hereditary MPO deficiencies exist that appear to be not related
to any defects of the MPO structural gene, although in this cases,
an abnormal type of MPO (unprocessed propeptide) is found. The genetic
defect of MPO deficiency is supposed to be expressed at the
translational level (Nauseef-1989).
[2] It was supposed that the translocational breaks in the segments q1/q2 interface in chr 17, which are frequently observed in acute myelogenous leukemia, may cause the defects in MPO gene and thereby involve its product in the pathogenesis of leukemia (Weil-1988; Rosmarin-1989; see also GEM:17q1/APLB)." |
|
REF |
LOC,LIN,MOL "Abe K &: CCG, 51, (HGM10), 948, 1989 LOC,LIN,MOL "Chang &: Leukemia, 1, 458-462, 1987 LOC,LIN,MOL "Chang &: Blood, 68, 1411, 1986 PRO,SEQ,EXP "Johnson KR &: NAR, 15, N5, 2013-2028, 1987 LOC,LIN,MOL "Miller &: Science, 244, 823-826, 1989 PRO,SEQ,EXP "Morishita K &: JBC, 262, 3844-3851, 1987 FUN,MEB "Murao &: PNAS, 85, N4, 1232-1236, 1988 PAT,MOL,MOP,GEN,EXP,POL "Nauseef WM: Blood, 73, N1, 290-295, 1989 PAT,EXP,MOL,CYG,DIF "Rosmarin &: Blood, 73, N1, 131-136, 1989 PAT,EXP,MOL,CYG,DIF "Weil SC &: Science, 240, (6 May), 790-792, 1988 LOC,LIN,MOL "Weil SC &: PNAS, 84, N7, 2057-2061, 1987 LOC,LIN,MOL "Xu WM &: PNAS, 85, N22, 8563-8567, 1988 |
|
KEY |
hem, onc, xen |
|
CLA |
coding, basic |
|
LOC |
17 q21.3-23 |
|
MIM |
MIM: 254600 |
|
EZN |
ENZYME: 1.11.1.7 |
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