FMC1-LUC7L2 Gene: Structure, Function, and Clinical Relevance

FMC1-LUC7L2 is a readthrough transcript that arises from the natural fusion of the FMC1 (formation of mitochondrial complex V assembly factor 1) and LUC7L2 (LUC7-like 2 pre-mRNA splicing factor) genes located on chromosome 7q34. This transcript produces a chimeric protein that retains the N-terminal domain of FMC1 and the C-terminal RNA-binding domain of LUC7L2. The readthrough event is supported by NCBI Gene and Ensembl annotations. The protein is predicted to localize to the nucleus and may participate in RNA splicing regulation, although functional studies are limited. The gene is expressed in various tissues, with notable levels in the testis and certain cancer cell lines. Mutations and altered expression of LUC7L2 have been implicated in hematological malignancies, and the readthrough transcript may contribute to disease pathogenesis.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)

• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)

The FMC1-LUC7L2 protein is a chimeric product of the FMC1 and LUC7L2 genes. It contains an N-terminal domain from FMC1 (function unknown) and a C-terminal domain from LUC7L2 that includes an RNA recognition motif (RRM). The protein is predicted to bind RNA and participate in pre-mRNA splicing. Its expression is enriched in testis and certain cancer cell lines, suggesting a role in spermatogenesis and oncogenesis. Mutations in the LUC7L2 portion may disrupt splicing regulation, contributing to hematological malignancies.