DHE3_HUMAN
Source:
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
GLUD1
, GLUD
Protein names and data:
DHE3_HUMAN
, Glutamate dehydrogenase 1, mitochondrial; GDH 1; 1.4.1.3; Flags: Precursor
Lenght: 558 a.a.
Mass: 61398 Da
fasta formatted sequence
Function:
Mitochondrial glutamate dehydrogenase that converts L- glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity).
Catalytic activity:
L-glutamate + H(2)O + NAD(P)(+) = 2- oxoglutarate + NH(3) + NAD(P)H.
Disease:
( OMIM:
138130
606762
)
Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]: Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. In HHF6 elevated oxidation rate of glutamate to alpha-ketoglutarate stimulates insulin secretion in the pancreatic beta cells, while they impair detoxification of ammonium in the liver. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Mitochondrion matrix.
Genetic variants
270 - 270
S -> C (in HHF6; diminished sensitivity to GTP). VAR_016760
274 - 274
R -> C (in HHF6; diminished sensitivity to GTP; dbSNP:rs56275071). VAR_016761
56275071
318 - 318
R -> K (in HHF6). VAR_009270
318 - 318
R -> T (in HHF6; diminished sensitivity to GTP). VAR_016762
319 - 319
Y -> C (in HHF6). VAR_016763
322 - 322
R -> C (in HHF6; diminished sensitivity to GTP). VAR_016764
322 - 322
R -> H (in HHF6; diminished sensitivity to GTP). VAR_016765
349 - 349
E -> A (in HHF6). VAR_009271
498 - 498
S -> L (in HHF6). VAR_008666
499 - 499
G -> D (in HHF6). VAR_008667
499 - 499
G -> S (in HHF6). VAR_008668
501 - 501
S -> P (in HHF6). VAR_008669
507 - 507
H -> Y (in HHF6; abolishes inhibition by ATP; no effect on activation by ADP). VAR_008670
Database cross-references
UniProt:
P00367
Ensembl:
ENST00000277865
MIM:
138130
MIM:
606762
neXtProt:
NX_P00367
Antibodypedia:
P00367
(may not find the protein thus also not any antibody)
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