Gene: [07q2/PON1] paraoxonase, plasma (paroxonase; arylesterase; esterase A) 1; coronary artery disease, association with the risk of;


FUN

The reaction catalyzed: a phenyl acetate + H(2)O = a phenol + acetate.

POL

Allozyme A (the allelic form of the enzyme with arginine at position 192) specifies high activity plasma paraoxonase, whereas allozyme B (the allelic form of the enzyme with glutamine at position 192) specifies a low activity variant (Humbert-1993)."

FAG

The following genes coding for paraoxonase have been found: GEM:07q2/PON2; GEM:07q2/PON3."

REF

POL,MOP "Adkins S &: AJHG, 52, N2, 598-608, 1993
POL "Antikainen M &: J Clin Invest, 98, N4, 883-885, 1996
CLO,SEQ,STR "Clendenning JB &: Genomics, 35, 586-589, 1996
POL "Davies HG &: Nature Genet, 14, N3, 334-336, 1996
LOC,LIN "Eiberg H &: Clin Genet, 28, 265-271, 1985
POL,ASS "Garin M-CB &: J Clin Invest, 99, N1, 62-66, 1997
CLO,SEQ,STR "Hassett C &: Biochemistry, 30, 10141-10149, 1991
LOC,POL "Humbert R &: Nature Genet, 3, 73-76, 1993
LOC,LIN "Klinger KW &: PNAS, 84, N23, 8548-8552, 1987
POL,FAG,MUT "Sanghera DK &: AJHG, 62, N1, 36-44, 1998
LOC,LIN "Schmiegelow K &: Clin Genet, 29, 374-377, 1986
POL,ASS "Serrato M, Marian AJ: J Clin Invest, 96, N6, 3005-3008, 1995
LOC,LIN "Tsui LC &: Science, 230, N4729, 1054-1057, 1985

SWI

SWISSPROT: P27169

KEY

xen, lip

CLA

coding, basic

LOC

07 q21-22

MIM

MIM: 168820

EZN

ENZYME: 3.1.1.2

Смотрите также:

  • Ген параоксоназы (PON)
  • PON1 ген