Recombinant Human 4-aminobutyrate aminotransferase, mitochondrial (ABAT)

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中文名称：

Recombinant Human 4-aminobutyrate aminotransferase, mitochondrial(ABAT)
货号：

CSB-EP001032HU
规格：

￥1344
图片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

Based on the SEQUEST from database of E.coli host and target protein, the LC-MS/MS Analysis result of CSB-EP001032HU could indicate that this peptide derived from E.coli-expressed Homo sapiens (Human) ABAT.

Based on the SEQUEST from database of E.coli host and target protein, the LC-MS/MS Analysis result of CSB-EP001032HU could indicate that this peptide derived from E.coli-expressed Homo sapiens (Human) ABAT.
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纯度：

Greater than 90% as determined by SDS-PAGE.
基因名：

ABAT
Uniprot No.：

P80404
别名：

(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
种属：

Homo sapiens (Human)
蛋白长度：

Full Length of Mature Protein
来源：

E.coli
分子量：

73.3kDa
表达区域：

29-500aa
氨基酸序列

SQAAAKVDVEFDYDGPLMKTEVPGPRSQELMKQLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQNASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYRSKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPSFDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGGDNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMMTGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLLDLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVFRDHHAHLFLNIFSDILADFK
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
蛋白标签：

N-terminal 10xHis-SUMO-tagged and C-terminal Myc-tagged
产品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
缓冲液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
储存条件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保质期：

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.
货期：

3-7 business days
注意事项：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

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功能：

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.
基因功能参考文献：
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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相关疾病：

GABA transaminase deficiency (GABATD)
亚细胞定位：

Mitochondrion matrix.
蛋白家族：

Class-III pyridoxal-phosphate-dependent aminotransferase family
组织特异性：

Liver > pancreas > brain > kidney > heart > placenta.
数据库链接：

HGNC: 23

OMIM: 137150

KEGG: hsa:18

STRING: 9606.ENSP00000268251

UniGene: Hs.336768

Recombinant Human 4-aminobutyrate aminotransferase, mitochondrial (ABAT)

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