IFFO1


Description

The IFFO1 (intermediate filament family orphan 1) is a protein-coding gene located on chromosome 12.

IFFO1 is a protein encoded by the IFFO1 gene in humans. It is a member of the intermediate filament family with uncharacterized function and a molecular weight of 61.98 kDa. IFFO1 proteins are essential components of the cytoskeleton and nuclear envelope in most eukaryotic cell types. The gene is located on chromosome 12p13.3 and contains 17,709 nucleotide bases, encoding for 570 amino acids. It has a basal isoelectric point of 4.83 and a conserved filament domain spanning 299 amino acids from residue 230 to 529. Due to alternative splicing, there are 7 isoforms of IFFO1 in humans with 10 typical coding exons. IFFO1 is also referred to as Intermediate Filament Family Orphan Isoform X1, Intermediate Filament Family Orphan, HOM-TES-103, Intermediate Filament-Like MGC: 2625, and Tumor Antigen HOM-TES-10.

IFFO1 is a nuclear matrix protein that plays a crucial role in repairing broken DNA ends. It prevents chromosome translocation during DNA double-strand breaks (DSBs) by immobilizing the broken ends. IFFO1 interacts with LMNA, a component of the nuclear lamina, to form a nucleoskeleton that relocates to the DSB sites. This relocation is dependent on XRCC4. IFFO1 acts as a scaffold that allows XRCC4 and LMNA to assemble into a complex at the DSB sites.

IFFO1 is also known as HOM-TES-103, IFFO.

Associated Diseases



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