Immunogen sequence: SQAAAKVDVE FDYDGPLMKT EVPGPRSQEL MKQLNIIQNA EAVHFFCNYE ESRGNYLVDV DGNRMLDLYS QISSVPIGYS HPALLKLIQQ PQNASMFVNR PALGILPPEN FVEKLRQSLL SVAPKGMSQL ITMACGSCSN ENALKTIFMW YRSKERGQRG FSQEELETCM INQAPGCPDY SILSFMGAFH GRTMGCLATT HSKAIHKIDI PSFDWPIAPF PRLKYPLEEF VKENQQEEAR CLEEVEDLIV KYRKKKKTVA GIIVEPIQSE GG; Positive Samples: SW480, A375, Mouse liver, Mouse kidney, Mouse brain; Cellular Location: Mitochondrion matrix
4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene.
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Protein Aliases: (S)-3-amino-2-methylpropionate transaminase; 4-aminobutyrate aminotransferase, brain isoform; 4-aminobutyrate aminotransferase, liver isoform; 4-aminobutyrate aminotransferase, mitochondrial; 4-aminobutyrate transaminase; beta-alanine oxoglutarate aminotransferase; GABA aminotransferase; GABA transaminase; GABA transferase; GABA-AT; GABA-T; Gamma-amino-N-butyrate transaminase; L-AIBAT
Gene Aliases: 9630038C02Rik; ABAT; AI255750; beta-AlaAT; ENSMUSG00000051226; GABA-AT; Gabaat; GABAT; Gm9851; I54; Laibat; NPD009; X61497