Gene: [12q242/ALDH2] aldehyde dehydrogenase 2, liver mitochondrial; alcohol abuse inhibitory factor (alcohol sensitivity);


GEN

The gene length is 44 kb. Exons: 13 (148, 105, 141, 80, 112, 129, 114, 103, 184, 166, 158, 115, and 433 bp; they code for 517 amino acids, including a 17-amino acid signal peptide); introns: 12."

FUN

[1] Systematic name: aldehyde:NAD+ oxidoreductase.
[2] The catalyzed reaction: an aldehyde + NAD+ + H(2)O = an acid + NADH."

FAG

See GEM:09q211/ALDH1.

PHE

Alcohol hypersensitivity (acute alcohol poisoning at low doses, flusching response) as a psychologic protector against alcohol abuse is determined by mutational defects of the mitochondrial isoform."

REF

PEP,FUN,EXP "Braun T &: FEBS Lett, 215, 233-236, 1987
LOC,CYG,MOL "Braun T &: Hum Genet, 73, 365-367, 1986
EVO,MAM,PAT "Dole &: PNAS, 82, N10, 3469-3471, 1985
FOG,POG,PAT "Goedde HW &: Hum Genet, 81, 305-307, 1989
REV,MOL,PAT "Goedde HW, Agarwal: Enzyme, 37, 29-44, 1987
FOG,POG,PAT "Goedde HW &: AJHG, 38, 395-399, 1986
FOG,POG,PAT "Goedde HW &: AJHG, 35, 769-772, 1983
FOG,POG,PAT "Goedde HW &: Hum Genet, 51, 331-334, 1979
EVO,MAM,PAT "Goldman &: Brain Res, 420, 220-226, 1987
PEP,FUN,EXP "Greenfield, Pietruszko: BBA, 483, 35-45, 1977
FOG,POG,PAT "Harada S &: AJHG, 32, 8-15, 1980a
PEP,FUN,EXP "Harada S &: Life Sci, 26, 1773-1780, 1980b
PEP,FUN,EXP "Hempel J &: Eur J Biochem, 153, 13-28, 1985
GEN,SEQ,MOP "Hsu LC &: Genomics, 2, N1, 57-65, 1988
FOG,POG,PAT "Hsu LC &: AJHG, 41, 996-1001, 1987
LOC,CYG,MOL "Hsu LC &: AJHG, 38, 641-648, 1986
LOC,CYG,MOL "Hsu LC &: CCG, 40, (HGM8), 656-657, 1985a
CLO,SEQ,EXP "Hsu LC &: PNAS, 82, (Jun), 3771-3775, 1985b
PEP,FUN,EXP "Ikawa &: JBC, 258, 6282-6287, 1983
FOG,POG,PAT "Impraim C &: AJHG, 34, 837-841, 1982
PAT "Johnson VP &: Am J Med Genet, 61, 329-339, 1996
EVO,MAM,PAT "Lindahl, Evces: JBC, 259, N19, 11986-11996, 1984
EVO,MAM,PAT "Mather, Holmes: Biochem Genet, 22, 981-995, 1984
ASS "Muramatsu T &: J Med Genet, 33, 113-115, 1996
PAT "Muramatsu T &: Hum Genet, 96, 151-154, 1995
EVO,MAM,PAT "Reed TE: J Studies Alcohol, 38, 618-632, 1977
REV,MOL,PAT "Smith M: Adv Hum Genet, 15, 249-290, 1986
FOG,POG,PAT "Teng YS &: Biochem Genet, 19, 107-114, 1981
EVO,MAM,PAT "Yamazaki &: Int J Biochem, 16, N2, 247-252, 1984
FOG,POG,PAT "Yoshida &: PNAS, 81, 258-261, 1984
FOG,POG,PAT "Yoshida &: AJHG, 35, 1107-1116, 1983

SWI

SWISSPROT: P05091

KEY

neu, mito

CLA

coding, basic

LOC

12 q24.2

MIM

MIM: 100650

EZN

ENZYME: 1.2.1.3

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