Gene: [16q221/NMOR1] NAD(P)H menadione oxidoreductase 1, dioxin-inducible (DT-diaphorase) (EC:1.6.99.2); diaphorase 4 (NADH/NADPH) (cytochrome b-5 reductase) (dihydrolipoamide dehydrogenase; EC:1.8.1.4); lung cancer, smoking induced, association with;


FAG

[1] The gene for menadione oxidoreductase (GEM:16q221/NMOR1) was identified (Jaiswal-1988), and its product was suggested to be identical to the product of diaphorase 4.
[2] On other DIA genes, see GEM:22q133/DIA1; GEM:00.0/DIA2; GEM:00.0/DIA3."

GEN

[1] The gene length is about 10 kb (no more than 16 kb).
[2] The full-length cDNA (2448 bp) codes for 274 amino acid protein (MM 30.88 kD). Of the gene primary transcripts, three mRNA species are identified: two major ones, about 2.7 and 1.7 kb in length, and a minor one, 1.2 kb in length. They differ in the 3'-untranslated region, no more than 1575 bp, although the original report (Jaiswal-1988) indicated another length, 1679 bp. This region contains four potential polyadenilation signals in positions 986, 1460, 1838, and 2419 bp and one Alu-repeat between second and third sites of the poly(A) signal."

REL

GEM:06^/NMOR2.

REF

LOC "Doggett NA &: CCG, 68, N3-4, 165-184, 1995
FOG,LOC "Edwards &: Ann Hum Genet, 47, 97-105, 1983
FOG,LOC "Grzeschik K-H: Hum Genet, 53, 189-193, 1980
PRO,SEQ,EXP,LOC,MOL "Jaiswal AK &: JBC, 263, N27, 13572-13578, 1988
FOG,LOC "Povey S &: Ann Hum Genet, 43, 349-353, 1980
ASS "Rosvold EA &: Pharmacogenetics, 5, N4, 199-206, 1995

SWI

SWISSPROT: P15559

KEY

xen, onc, mito, lip

CLA

coding, basic

LOC

16 q22.1

MIM

MIM: 125860

EZN

ENZYME: 1.6.99.2

Смотрите также:

  • Gene: [07q3/DLD] lipoamide dehydrogenase; lactoacidosis due to lipoamide dehydrogenase deficiency;
  • Gene: [06^/NMOR2] NAD(P)H menadione oxidoreductase 2, dioxin-inducible;