Gene: [09q341/ASS] argininosuccinate synthetase; citrullinuria (argininosuccinate synthetase deficiency);


FUN

Systematic name: L-citrulline:L-aspartate ligase. Catalyzes reaction: ATP + L-citrulline + L-aspartate = AMP + pyrophosphate + L-argininosuccinate."

PSG

GEM:02p/ASSP1; GEM:06^/ASSP2; GEM:09q/ASSP3; GEM:0Xp22/ASSP4; GEM:0Xq2/ASSP5; GEM:0Y^/ASSP6; GEM:03q/ASSP7; GEM:04q/ASSP8; GEM:05q1/ASSP9; GEM:05q1/ASSP10; GEM:07p/ASSP11; GEM:09^/ASSP12; GEM:11q/ASSP13; GEM:12^/ASSP14."

REF

REV,GEN,FAG,PAT "Beaudet AL &: Adv Hum Genet, 15, 161-196, 1986
CLO,LOC,CYG,MOL,FAG "Beaudet AL &: Cell, 30, (Apr), 287-293, 1982
LOC,CYG,MOL "Carritt B &: Exp Cell Res, 106, 71-78, 1977
PRO,LOC,POL,FAG,MAP "Daiger SP &: AJHG, 36, 736-749, 1984
FAG,MAP "Daiger SP &: Nature, 298, 682-684, 1982
FAG,EAG,SEQ "Freytag SO &: JBC, 259, N5, 3160-3166, 1984a
CLO,SEQ,GEN,EXP "Freytag SO &: Mol Cell Biol, 4, 1978-1984, 1984b
LOC,LIN,EXP,REL "Furlong RA &: AJHG, 52, 1191-1199, 1993
LOC,LIN,EXP,REL "Haines JL &: CCG, 51, 1010, 1989
LOC,LIN,EXP,REL "Harris RM &: CCG, 58, 1940, 1991
CLO,SEQ,GEN,EXP "Jinno Y &: J Biochem, 98, N5, 1395-1403, 1985
EXP,PAT "Kobayashi &: Hum Genet, 76, 27-32, 1987
EXP,PAT "Kobayashi &: AJHG, 38, 667-680, 1986
LOC,LIN,EXP,REL "Kwiatkowski DJ &: Science, 258, 67-89, 1992
LOC,LIN,EXP,REL "Kwiatkowski DJ &: AJHG, 48, 121-128, 1991
LOC,LIN,EXP,REL "Northrup H &: Genomics, 5, 442-444, 1989
PAT "Okeda &: Acta Neuropathol, 78, 96-100, 1989
LOC,LIN,EXP,REL "Povey S &: Ann Hum Genet, 58, 177-250, 1994
CLO,LOC,CYG,MOL,FAG "Su TS &: AJHG, 36, 954-964, 1984
CLO,FAG,EXP,MEB "Su TS &: JBC, 256, 11826-11831, 1981
LOC,LIN,EXP,REL "Yuille MAR &: NAR, 18, 7472, 1990

SWI

SWISSPROT: P00966

KEY

urea, aac, mtbd, neu

CLA

coding, basic

LOC

09 q34.1

MIM

MIM: 215700

EZN

ENZYME: 6.3.4.5

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