Anti-SLC25A19 Antibody (CAB12727)
- SKU:
- CAB12727
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Frequently bought together:
Description
| 抗体名: | Anti-SLC25A19 Antibody |
| 抗体コード: | CAB12727 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | WB IF |
| 反応性: | Human, Mouse |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-80 of human SLC25A19 (NP_068380.3). |
| 申し込み: | WB IF |
| 推奨希釈: | WB 1:1000 - 1:2000 IF 1:50 - 1:200 |
| 反応性: | Human, Mouse |
| ポジティブサンプル: |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-80 of human SLC25A19 (NP_068380.3). |
| 精製方法: | Affinity purification |
| ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| アイソタイプ: | IgG |
| 順序: | MVGY DPKP DGRN NTKF QVAV AGSV SGLV TRAL ISPF DVIK IRFQ LQHE RLSR SDPS AKYH GILQ ASRQ ILQE EGPT AFWK |
| 遺伝子ID: | 60386 |
| Uniprot: | Q9HC21 |
| セルラーロケーション: | Mitochondrion inner membrane, Multi-pass membrane protein |
| 計算された分子量: | 29kDa/35kDa |
| 観察された分子量: | Refer to Figures |
| 同義語: | SLC25A19, DNC, MCPHA, MUP1, THMD3, THMD4, TPC |
| バックグラウンド: | This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. |
| UniProt Protein Function: | SLC25A19: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. Defects in SLC25A19 are the cause of microcephaly Amish type (MCPHA); also known as Amish lethal microcephaly. MCPHA is an autosomal recessive metabolic disorder characterized by severe congenital microcephaly, severe 2- ketoglutaric aciduria and death within the first year. Defects in SLC25A19 are the cause of striatal necrosis bilateral and progressive polyneuropathy (SNBPP). A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Belongs to the mitochondrial carrier family. |
| UniProt Protein Details: | Protein type:Membrane protein, integral; Transporter, SLC family; Transporter; Membrane protein, multi-pass; Mitochondrial Chromosomal Location of Human Ortholog: 17q25.3 Cellular Component: nucleus Molecular Function:deoxynucleotide transmembrane transporter activity; structural constituent of ribosome Biological Process: positive regulation of defense response to virus by host; translation Disease: Microcephaly, Amish Type; Thiamine Metabolism Dysfunction Syndrome 4 (bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
| NCBI Summary: | This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q9HC21 |
| NCBI GenInfo Identifier: | 20137652 |
| NCBI Gene ID: | 60386 |
| NCBI Accession: | Q9HC21.1 |
| UniProt Secondary Accession: | Q9HC21,Q6V9R7, E9PF74, |
| UniProt Related Accession: | Q9HC21 |
| Molecular Weight: | 29,217 Da |
| NCBI Full Name: | Mitochondrial thiamine pyrophosphate carrier |
| NCBI Synonym Full Names: | solute carrier family 25 member 19 |
| NCBI Official Symbol: | SLC25A19 |
| NCBI Official Synonym Symbols: | DNC; TPC; MUP1; MCPHA; THMD3; THMD4 |
| NCBI Protein Information: | mitochondrial thiamine pyrophosphate carrier |
| UniProt Protein Name: | Mitochondrial thiamine pyrophosphate carrier |
| UniProt Synonym Protein Names: | Mitochondrial uncoupling protein 1; Solute carrier family 25 member 19 |
| Protein Family: | Mitochondrial thiamine pyrophosphate carrier |
| UniProt Gene Name: | SLC25A19 |
| UniProt Entry Name: | TPC_HUMAN |
 | Immunofluorescence analysis of NIH/3T3 cells using SLC25A19 antibody (CAB12727) at dilution of 1:100. Blue: DAPI for nuclear staining. |
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