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

鸯铗痂蝈 蜞赕:

  • Gene: [14q112/CTSG] cathepsin G;
  • Gene: [00.0/EPX] eosinophil peroxidase; hereditary eosinophil peroxidase deficiency (Presentey anomaly; MIM:261500);
  • 缅 扈咫铒屦铌耔溧琨