Gene: [10q233/GLUD1] glutamate dehydrogenase 1, liver; hyperinsulinism-hyperammonemia syndrome;
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FAG |
[1] There two genetically independent glutamate dehydrogenase forms,
hepatic
and retinal (GEM:0Xq2/GLUD2) and 4 loci for
pseudogenes: GEM:10q112/GLUDP2;
GEM:10q221/GLUDP3; GEM:00.0/GLUDP4; GEM:10p112/GLUDP5.
[2] GLUD1 is possibly related to olivopontocerebellar atrophy (MIM:164400; GEM:06p23/SCA1)." |
|
REF |
LOC,PRO,FAG "Anagnou NP &: CCG, 58, (HGM11), 1947, 1991 LOC,PRO,FAG "Deloukas P &: Genomics, 17, 676-681, 1993 POL,MOL "Hanauer A &: NAR, 15, 6308-6308, 1987 LOC,PRO,FAG "Hanauer A &: CCG, 40, (HGM8), 647-648, 1985 LOC,PRO,FAG "Jung KY &: Ann Genet, 32, 109-110, 1989 SEQ "Mavrothalassitis G &: PNAS, 85, 3494-3498, 1988 MUT "Stanley CA &: New Engl J Med, 338, N19, 1352-1357, 1998 PAT "Weinzimer SA &: J Pediatr, 130, N4, 661-664, 1997 |
|
CLA |
coding, basic |
|
LOC |
10 q23.3 |
|
MIM |
MIM: 138130 |
|
EZN |
ENZYME: 1.4.1.3 |
