Gene: [07q11/ASL] argininosuccinate lyase; argininosuccinicaciduria;


FUN

Systematic name: (L-arginino)succinate arginine -lyase. The reaction catalyzed: N-(L-arginino)succinate = fumarate + L-arginine."

REL

GEM:22^/ASLL

REF

HIS,PAT,PHE,FOG "Allan &: Lancet, 1, 182-187, 1958
PAT,MEB,MUT,PND,TER "Bohles &: Eur J Pediatr, 128, 225-233, 1978
PAT,MEB,MUT,PND,TER "Brusilow, Batshaw: Lancet, 1, 124-127, 1979
PAT,MEB,MUT,PND,TER "Cathelineau &: Hum Genet, 57, 282-284, 1981
PAT,MEB,MUT,PND,TER "Collins &: J Pediatr, 96, 429-431, 1980
HIS,PAT,PHE,FOG "Coryell &: BBRC, 14, 307-312, 1964
PAT,MEB,MUT,PND,TER "Fleisher &: AJHG, 31, 439-445, 1979
PAT,MEB,MUT,PND,TER "Goodman &: Clin Genet, 4, 236-240, 1973
RAT,EVO,SEQ,EXP "Kawamoto &: Mol Brain Res, 5, 235-241, 1989
HIS,PAT,PHE,FOG "Levin &: Arch Dis Child, 36, 622-632, 1961
GEN,EVO,RAT,VER,MEB "Matsubasa &: PNAS, 86, N2, 592-596, 1989
PAT,MEB,MUT,PND,TER "McInnes RR &: PNAS, 81, 4480-4484, 1984
LOC,CYG "Naylor SL &: PNAS, 75, 6159-6162, 1978
CLO,SEQ,EXP,LOC,FAG,EVO "O'Brien WE &: PNAS, 83, N19, 7211-7215, 1986
PAT,MEB,MUT,PND,TER "Simard &: AJHG, 39, 38-51, 1986
CLO,SEQ,EXP,LOC,FAG,EVO "Todd S &: Genomics, 4, 53-59, 1989

SWI

SWISSPROT: P04424

KEY

aac, mtbd, neu

CLA

coding, basic

LOC

07 q11

MIM

MIM: 207900

EZN

ENZYME: 4.3.2.1

Смотрите также:

  • Аргининосукциназа-HUGEN