Anti-TPK1 Antibody (CAB4634)
- SKU:
- CAB4634
- Product type:
- Antibody
- Antibody Type:
- Polyclonal Antibody
- Reactivity:
- Human
- Mouse
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Synonyms:
- TPK1
- HTPK1
- PP20
- THMD5
Frequently bought together:
Description
| Product Name: | TPK1 Rabbit pAb |
| Product Code: | CAB4634 |
| Size: | 20uL, 50uL, 100uL |
| Synonyms: | TPK1, HTPK1, PP20, THMD5 |
| Applications: | WB |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-243 of human TPK1 (NP_071890.2). |
| Applications: | WB |
| Recommended Dilutions: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: | Mouse kidney, Rat kidney |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-243 of human TPK1 (NP_071890.2). |
| Purification Method: | Affinity purification |
| Storage: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | MEHA FTPL EPLL STGN LKYC LVIL NQPL DNYF RHLW NKAL LRAC ADGG ANRL YDIT EGER ESFL PEFI NGDF DSIR PEVR EYYA TKGC ELIS TPDQ DHTD FTKC LKML QKKI EEKD LKVD VIVT LGGL AGRF DQIM ASVN TLFQ ATHI TPFP IIII QEES LIYL LQPG KHRL HVDT GMEG DWCG LIPV GQPC MQVT TTGL KWNL TNDV LAFG TLVS TSNT YDGS GVVT VETD HPLL WTMA IKS |
| Gene ID: | 27010 |
| Uniprot: | Q9H3S4 |
| Calculated MW: | 13kDa/27kDa |
| Observed MW: | 27KDa |
| UniProt Protein Function: | TPK1: Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. Defects in TPK1 are the cause of thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5). An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. Belongs to the thiamine pyrophosphokinase family. |
| UniProt Protein Details: | Protein type:EC 2.7.6.2; Cofactor and Vitamin Metabolism - thiamine; Kinase, other Chromosomal Location of Human Ortholog: 7q34-q35 Cellular Component: cytosol Molecular Function:thiamin binding; thiamin diphosphokinase activity; kinase activity; ATP binding Biological Process: thiamin metabolic process; vitamin metabolic process; thiamin and derivative metabolic process; thiamin diphosphate biosynthetic process; phosphorylation; water-soluble vitamin metabolic process Disease: Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type) |
| NCBI Summary: | The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017] |
| UniProt Code: | Q9H3S4 |
| NCBI GenInfo Identifier: | 44888537 |
| NCBI Gene ID: | 27010 |
| NCBI Accession: | Q9H3S4.1 |
| UniProt Related Accession: | Q9H3S4 |
| Molecular Weight: | ~ 28kDa |
| NCBI Full Name: | Thiamin pyrophosphokinase 1 |
| NCBI Synonym Full Names: | thiamin pyrophosphokinase 1 |
| NCBI Official Symbol: | TPK1 |
| NCBI Official Synonym Symbols: | PP20; HTPK1; THMD5 |
| NCBI Protein Information: | thiamin pyrophosphokinase 1 |
| UniProt Protein Name: | Thiamin pyrophosphokinase 1 |
| UniProt Synonym Protein Names: | Placental protein 20; PP20; Thiamine pyrophosphokinase 1 |
| Protein Family: | Thiamin pyrophosphokinase |
| UniProt Gene Name: | TPK1 |
| UniProt Entry Name: | TPK1_HUMAN |
Related Products
