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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
Research Area:
Cell Biology
  • Cell Biology Antibodies 9 Anti-TPK1 Antibody CAB4634
  • Cell Biology Antibodies 9 Anti-TPK1 Antibody CAB4634
€139 - €419
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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

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