TSFM Antibody

Code CSB-PA025124GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
TSFM
Alternative Names
COXPD 3 antibody; COXPD3 antibody; EF TS antibody; EF Tsmt antibody; EF-Ts antibody; EF-TsMt antibody; EFTS antibody; EFTS_HUMAN antibody; EFTSMT antibody; Elongation factor Ts antibody; Elongation factor Ts mitochondrial antibody; HGNC12367 antibody; mitochondrial antibody; Mitochondrial elongation factor Ts antibody; Ts translation elongation factor mitochondrial antibody; TSFM antibody; TSMT antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human TSFM
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB,IHC
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome.
Gene References into Functions
  1. Different TSFM mutations can produce the same or very different clinical phenotypes, going from abortions to moderately severe presentations. On the other hand, the same TSFM mutation can also produce same or different phenotypes within the same range of presentations, therefore suggesting the involvement of unknown factors. PMID: 27677415
  2. show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or Leigh disease PMID: 25037205
  3. identified a homozygous mutation changing a highly conserved arginine into a tryptophan (R312W) in a kindred with intrauterine growth retardation, neonatal lactic acidosis, liver dysfunction and multiple respiratory chain deficiency in muscle PMID: 21741925
  4. Molecular modeling showed that the Arg333Trp substitution disrupts local subdomain structure and the dimerization interface. PMID: 17033963
Involvement in disease
Combined oxidative phosphorylation deficiency 3 (COXPD3)
Subcellular Location
Mitochondrion.
Protein Families
EF-Ts family
Tissue Specificity
Expressed in all tissues, with the highest levels of expression in skeletal muscle, liver and kidney.
Database Links

HGNC: 12367

OMIM: 604723

KEGG: hsa:10102

UniGene: Hs.632704

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301-363-4651 (Available 9 a.m. to 5 p.m. CST from Monday to Friday)
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7505 Fannin St., Ste 610, Room 7 (CUBIO Innovation Center), Houston, TX 77054, USA
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