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KIAA1279 Protein, Human, Recombinant

Catalog No. TMPY-00589
Synonyms: TTC2, KIAA1279, KBP

KIFBP (Kinesin Family Binding Protein, also known as KIAA1279 and KIF1BP) is a Protein Coding gene. This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratricopeptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating the transport of the mitochondria. Homozygous nonsense mutations in KIAA1279 at 1q22.1, encoding a protein with two tetratricopeptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of KIAA1279 in both enteric and central nervous system development. KIAA1279 is widely expressed in the brain, testis, and other tissues. Diseases associated with KIFBP include Goldberg-Shprintzen Syndrome and Shprintzen-Goldberg Craniosynostosis Syndrome.

All products from TargetMol are for Research Use Only. Not for Human or Veterinary or Therapeutic Use.
KIAA1279 Protein, Human, Recombinant
Pack Size Availability Price/USD Quantity
100 μg 5 days $ 700.00
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Biological Description
Technical Params
Product Properties
Description KIFBP (Kinesin Family Binding Protein, also known as KIAA1279 and KIF1BP) is a Protein Coding gene. This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratricopeptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating the transport of the mitochondria. Homozygous nonsense mutations in KIAA1279 at 1q22.1, encoding a protein with two tetratricopeptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of KIAA1279 in both enteric and central nervous system development. KIAA1279 is widely expressed in the brain, testis, and other tissues. Diseases associated with KIFBP include Goldberg-Shprintzen Syndrome and Shprintzen-Goldberg Craniosynostosis Syndrome.
Species Human
Expression System Baculovirus-Insect Cells
Tag Tag Free
Accession Number Q96EK5
Synonyms TTC2, KIAA1279, KBP
Construction A DNA sequence encoding the human KIAA1279 (Q96EK5) (Met1-Thr621) was expressed with two additional amino acids (Gly & Pro) at the N-terminus.
Protein Purity > 75 % as determined by SDS-PAGE
Molecular Weight 72 kDa (predicted)
Endotoxin < 1.0 EU per μg of the protein as determined by the LAL method
Formulation Lyophilized from sterile 20mM Tris, 500mM NaCl, 10% glycerol, pH 7.4. Please contact us for any concerns or special requirements. Normally 5 % - 8 % trehalose, mannitol and 0. 01% Tween 80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
Reconstitution A hardcopy of datasheet with reconstitution instructions is sent along with the products. Please refer to it for detailed information.
Stability & Storage

Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
Shipping

In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature.Bulk packages of recombinant proteins are provided as frozen liquid. They are shipped out with blue ice unless customers require otherwise.
Research Background KIFBP (Kinesin Family Binding Protein, also known as KIAA1279 and KIF1BP) is a Protein Coding gene. This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratricopeptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating the transport of the mitochondria. Homozygous nonsense mutations in KIAA1279 at 1q22.1, encoding a protein with two tetratricopeptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of KIAA1279 in both enteric and central nervous system development. KIAA1279 is widely expressed in the brain, testis, and other tissues. Diseases associated with KIFBP include Goldberg-Shprintzen Syndrome and Shprintzen-Goldberg Craniosynostosis Syndrome.

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Keywords

KIAA1279 Protein, Human, Recombinant TTC2 KIAA 1279 KIAA1279 KBP TTC-2 TTC 2 KIAA-1279 recombinant recombinant-proteins proteins protein

 

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