NCBI and Uniprot Product Information
NCBI Description
This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
Uniprot Description
KIF1BP: Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. Regulates mitochondrial transport by modulating KIF1B motor activity. Defects in KIAA1279 are the cause of Goldberg-Shprintzen megacolon syndrome (GOSHS). GOSHS is characterized by microcephaly, mental retardation and facial dysmorphism, as well as phenotypes related to Hirschsprung disease syndrome. Belongs to the KIF1-binding protein family.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 10q22.1
Cellular Component: mitochondrion
Molecular Function: kinesin binding; protein binding
Biological Process: mitochondrial transport; nervous system development
Disease: Goldberg-shprintzen Syndrome
Research Articles on KIAA1279
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Product Notes
The KIAA1279 kif1bp (Catalog #AAA2545207) is a Recombinant Protein produced from Baculovirus-Insect Cells and is intended for research purposes only. The product is available for immediate purchase. The recombinant human KIAA1279/GST chimera consists of 858 amino acids and has a calculated molecular mass of 99.6 kDa. The recombinant protein migrates as an approximately 92-102 kDa band in SDS-PAGE under reducing conditions. Researchers should empirically determine the suitability of the KIAA1279 kif1bp for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "KIAA1279, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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