RBM45 Gene: Function, Expression, and Role in Disease

RBM45 (RNA Binding Motif Protein 45) encodes a protein that contains an RNA recognition motif (RRM) and is involved in RNA processing, including splicing and transport. The protein is predominantly expressed in the brain and testis. RBM45 has been implicated in neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), where it forms cytoplasmic inclusions in affected neurons. It also plays a role in DNA damage response and cell cycle regulation.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• RNA splicing

• mRNA surveillance pathway

• DNA damage response

RBM45 is a 45 kDa RNA-binding protein containing a single N-terminal RNA recognition motif (RRM) and a C-terminal domain. It shuttles between the nucleus and cytoplasm, participating in pre-mRNA splicing and RNA transport. Under stress conditions, RBM45 localizes to cytoplasmic stress granules and can form insoluble aggregates. Its aggregation is a hallmark of ALS and FTD, where it co-localizes with TDP-43 and FUS. RBM45 also interacts with DNA repair proteins, suggesting a role in maintaining genomic stability.