KIAA1279 Protein, Human, Recombinant

• 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.

• Synonyms:

  KBP Protein, Human; KIAA1279 Protein, Human; TTC20 Protein, Human

• UniProt:

  Q96EK5

• Expression System:

  Baculovirus-Insect Cells

• Tag:

  No tag

• Endotoxin:

  < 1.0 EU per μg of the protein as determined by the LAL method.

• Purity:

  > 75 % as determined by SDS-PAGE.

• Activity:

  At Leading Biology, the biological activity of a recombinant protein is routinely measured using a bioassay, e.g. chemotaxis or cell proliferation assay, enzyme assay, or a functional ELISA. When a recombinant protein is an enzyme, specific activity is derived from an enzymatic assay. Each enzyme is tested for potency by cleavage of a substrate. We are in the process of updating the biological activity data. If you have any questions regarding this update, please feel free to contact our technical support team.

• Form:

  Lyophilized

• Buffer:

  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.

• Molecular Weight:

  The recombinant human KIAA1279 consists of 623 amino acids and has a calculated molecular mass of 72 kDa. The recombinant protein migrates as an approximately 72 kDa band in SDS-PAGE under reducing conditions.

• Storage Conditions:

  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. Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  KIF1BP

• Species:

  Human

• Overview:

  A DNA sequence encoding the human KIAA1279 (Q96EK5) (Met1-Thr621) was expressed with two additional amino acids (Gly & Pro) at the N-terminus.

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q96EK5

• AA Sequence:

  Met1-Thr621