Filamin C pseudogene

Filamin C pseudogene (ENSG00000224163, LOC392787) is a non-protein-coding genomic sequence highly homologous (>98%) to the terminal exons (46, 47, 48) and adjacent introns of the functional FLNC gene, which encodes filamin C, an actin-binding protein essential for cardiac and skeletal muscle function[2][8]. The pseudogene does not produce a functional filamin C protein and is not known to participate in actin crosslinking or muscle cytoskeleton integrity. Misidentification or inadvertent inclusion of the pseudogene in genetic studies can lead to erroneous conclusions regarding disease causation; careful molecular methods are required to distinguish between mutations in FLNC and its pseudogene[2][8]. ENSG00000224163 (LOC392787) is a filamin C pseudogene, not a receptor or actionable molecular target. It does not encode a protein and is not implicated in human disease or drug action. Its main relevance is technical: distinction from the functional FLNC gene is necessary in genetic diagnostics[2][8].

Other names

LOC392787Pseudogene similar to part of filamin C, gamma (actin binding protein 280) (FLNC)