Recombinant Human 4-aminobutyrate aminotransferase, mitochondrial(ABAT)

Code CSB-YP001032HU
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Source Yeast
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Code CSB-EP001032HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP001032HU
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Source Baculovirus
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Code CSB-MP001032HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names ABAT
Uniprot No. P80404
Alternative Names (S) 3 amino 2 methylpropionate transaminase ; (S)-3-amino-2-methylpropionate transaminase; 4 aminobutyrate aminotransferase; 4 aminobutyrate aminotransferase; mitochondrial; 4-aminobutyrate aminotransferase; ABAT; FLJ17813; FLJ30272; GABA aminotransferase; GABA AT; GABA T; GABA transaminase; GABA transferase; GABA-AT; GABA-T; GABAT; GABT_HUMAN; Gamma amino N butyrate transaminase; Gamma-amino-N-butyrate transaminase; hCG1984265; L AIBAT; L-AIBAT; LAIBAT; mitochondrial; NPD009
Species Homo sapiens (Human)
Expression Region 29-500
Target Protein Sequence SQ AAAKVDVEFD YDGPLMKTEV PGPRSQELMK QLNIIQNAEA VHFFCNYEES RGNYLVDVDG NRMLDLYSQI SSVPIGYSHP ALLKLIQQPQ NASMFVNRPA LGILPPENFV EKLRQSLLSV APKGMSQLIT MACGSCSNEN ALKTIFMWYR SKERGQRGFS QEELETCMIN QAPGCPDYSI LSFMGAFHGR TMGCLATTHS KAIHKIDIPS FDWPIAPFPR LKYPLEEFVK ENQQEEARCL EEVEDLIVKY RKKKKTVAGI IVEPIQSEGG DNHASDDFFR KLRDIARKHG CAFLVDEVQT GGGCTGKFWA HEHWGLDDPA DVMTFSKKMM TGGFFHKEEF RPNAPYRIFN TWLGDPSKNL LLAEVINIIK REDLLNNAAH AGKALLTGLL DLQARYPQFI SRVRGRGTFC SFDTPDDSIR NKLILIARNK GVVLGGCGDK SIRFRPTLVF RDHHAHLFLN IFSDILADFK
Protein Length Full Length of Mature Protein
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

Target Data

Function 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.
Gene References into Functions
  1. This study utilized ER+ IBC to identify a metagene including ABAT and STC2 as predictive biomarkers for endocrine therapy resistance. PMID: 25771305
  2. A-to-G transition at nucleotide 754 of the human ABAT gene identified in lymphoblast cDNA (c.754A>G) results in substitution of an invariant arginine at amino acid 220 by lysine (p.Arg220Lys). This point mutation results in destabilization of the binding of pyridoxal-5'-phosphate to GABA-transaminase (required for transamination of GABA to succinic semialdehyde) and thus results in GABA-transaminase deficiency. PMID: 25485164
  3. Findings point to a possible role of ABAT gene-regulated GABA catabolism for an altered processing of somatosensory stimuli as a potential vulnerability marker for affective disorders. PMID: 22225676
  4. direct involvement of ABAT in pathways affecting lower esophageal sphincter (LES) control in gastro esophageal reflux disease PMID: 21552517
  5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20659789
  6. excessive prenatal GABA exposure in the central nervous system (CNS) is responsible for the clinical manifestations of GABA transaminase deficiency [case report] PMID: 20052547
  7. Marked differences in platelet uptake of GABA and activity of catabolic enzyme GABA-T between patients with generalized and localization-related epileptic syndromes. May indicate an impairment in function of brain GABAergic systems. PMID: 12694932
  8. results suggest that the Cys321 residue is essential for the catalytic function of GABAT, and that it is involved in the formation of a disulfide link between two monomers of human brain GABAT PMID: 15528998
  9. lysine 357 is essential for catalytic function of brain GABA transaminase, and is involved in binding PLP at the active site PMID: 15650327
  10. Analysis of the autistic disorder susceptibility locus suggests an association on chromosome 16p between GRIN2A and ABAT. PMID: 15830322

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Involvement in disease GABA transaminase deficiency (GABATD)
Subcellular Location Mitochondrion matrix
Protein Families Class-III pyridoxal-phosphate-dependent aminotransferase family
Tissue Specificity Liver > pancreas > brain > kidney > heart > placenta.
Database Links

HGNC: 23

OMIM: 137150

KEGG: hsa:18

STRING: 9606.ENSP00000268251

UniGene: Hs.336768

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