catalog number :
MBS958729
products type :
Recombinant Protein
products full name :
Recombinant Human 4-aminobutyrate aminotransferase, mitochondrial (ABAT)
products short name :
4-aminobutyrate aminotransferase, mitochondrial (ABAT)
products name syn :
4-aminobutyrate aminotransferase, mitochondrial; EC=2.6.1.19; (S)-3-amino-2-methylpropionate transaminase; EC=2.6.1.22; GABA aminotransferase; GABA-AT; Gamma-amino-N-butyrate transaminase; GABA transaminase; GABA-T; L-AIBAT
other names :
4-aminobutyrate aminotransferase, mitochondrial; 4-aminobutyrate aminotransferase, mitochondrial; 4-aminobutyrate aminotransferase, mitochondrial; GABA transferase; GABA transaminase; GABA aminotransferase; 4-aminobutyrate transaminase; gamma-amino-N-butyrate transaminase; (S)-3-amino-2-methylpropionate transaminase; 4-aminobutyrate aminotransferase; (S)-3-amino-2-methylpropionate transaminase (EC:2.6.1.22); GABA aminotransferase; GABA-AT; Gamma-amino-N-butyrate transaminase; GABA transaminase; GABA-T; L-AIBAT
products gene name :
ABAT
products gene name syn :
ABAT; GABAT
other gene names :
ABAT; ABAT; GABAT; NPD009; GABA-AT; GABAT; GABA-AT; GABA transaminase; GABA-T
uniprot entry name :
GABT_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
sequence positions :
29-500, Mature full length protein.
sequence :
SQAAAKVDVEFDYDGPLMKTEVPGPRSQELMKQLNIIQN
AEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIG
YSHPALLKLIQQPQNASMFVNRPALGILPPENFVEKLRQ
SLLSVAPKGMSQLITMACGSCSNENALKTIFMWYRSKER
GQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMG
CLATTHSKAIHKIDIPSFDWPIAPFPRLKYPLEEFVKEN
QQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGGD
NHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWA
HEHWGLDDPADVMTFSKKMMTGGFFHKEEFRPNAPYRIF
NTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTG
LLDLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIA
RNKGVVLGGCGDKSIRFRPTLVFRDHHAHLFLNIFSDIL
ADFK
form :
Liquid containing glycerol; lyophilization may be available upon request.
storage stability :
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
other info1 :
Species: Homo sapiens (Human)
ncbi acc num :
NP_000654.2
ncbi gb acc num :
NM_000663.4
ncbi mol weight :
56,439 Da
ncbi pathways :
4-aminobutyrate Degradation I Pathway (545335); 4-aminobutyrate Degradation I Pathway (545591); Alanine And Aspartate Metabolism Pathway (198783); Alanine, Aspartate And Glutamate Metabolism Pathway (101142); Alanine, Aspartate And Glutamate Metabolism Pathway (100063); Butanoate Metabolism Pathway (83007); Butanoate Metabolism Pathway (391); Degradation Of GABA Pathway (187177); GABA (gamma-Aminobutyrate) Shunt Pathway (413433); GABA (gamma-Aminobutyrate) Shunt Pathway (468220)
ncbi summary :
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. [provided by RefSeq, Jul 2008]
uniprot summary :
ABAT: Catalyzes the conversion of gamma-aminobutyrate and L- beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine. Defects in ABAT are a cause of GABA transaminase deficiency (GABATD). The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. Protein type: EC 2.6.1.19; Mitochondrial; Transferase; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Other Amino Acids Metabolism - beta-alanine; Amino Acid Metabolism - alanine, aspartate and glutamate; Carbohydrate Metabolism - propanoate; EC 2.6.1.22; Carbohydrate Metabolism - butanoate. Chromosomal Location of Human Ortholog: 16p13.2. Cellular Component: neuron projection; mitochondrion; mitochondrial matrix; 4-aminobutyrate transaminase complex. Molecular Function: protein homodimerization activity; succinate-semialdehyde dehydrogenase binding; (S)-3-amino-2-methylpropionate transaminase activity; 4-aminobutyrate transaminase activity; pyridoxal phosphate binding. Biological Process: response to nicotine; response to drug; copulation; neurotransmitter catabolic process; neurotransmitter secretion; locomotory behavior; synaptic transmission; response to ethanol; behavioral response to cocaine; response to hypoxia; negative regulation of blood pressure; gamma-aminobutyric acid catabolic process; response to iron ion. Disease: Gaba-transaminase Deficiency
size2 :
0.05 mg (Baculovirus)
size3 :
0.05 mg (Mammalian-Cell)