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Literature summary for 2.6.1.19 extracted from

  • Tsuji, M.; Aida, N.; Obata, T.; Tomiyasu, M.; Furuya, N.; Kurosawa, K.; Errami, A.; Gibson, K.M.; Salomons, G.S.; Jakobs, C.; Osaka, H.
    A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy (2010), J. Inherit. Metab. Dis., 33, 85-90.
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
serum
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
4-aminobutyrate aminotransferase
-
Homo sapiens
GABA transaminase
-
Homo sapiens
GABA-T
-
Homo sapiens
gamma-aminobutyrate: GABA transaminase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
pyridoxal 5'-phosphate
-
Homo sapiens

General Information

General Information Comment Organism
malfunction patients with GABA-T deficiency show severe, nonspecific neurological manifestations, including psychomotor retardation, epilepsy, hypotonia, and hyperreflexia Homo sapiens