RBM8A

Phenotypes

Mouse phenotype:

Prx1-Cre conditional Rbm8a knockout: shorter limb bones across developmental timepoints, delayed ossification, altered cranial morphogenesis, impaired motor function, reduced brain size, reduced SOX9 and increased IHH in primary ossification center, downregulation of Hedgehog targets (Gli3, Hhip).

Subcellular localization

nucleus

References: doi:10.64898/2026.04.21.718480

Functional category

• mRNA processing
• Exon junction complex
• Hedgehog signalling (mouse model)

Function

RNA-binding motif protein 8A; core component of the exon junction complex (EJC) for post-transcriptional mRNA regulation. Cilia-associated on functional grounds (Mott et al. 2026): RBM8A preferentially binds long, exon-rich transcripts enriched in primary-cilia, RNA-processing and developmental-signaling pathways; Rbm8a conditional knockout (Prx1-cre) disrupts limb/craniofacial development and selectively attenuates Hedgehog signaling (reduced Gli3 and Hhip), with enrichment for ciliopathy-related and congenital skeletal disease gene sets. Mutations cause thrombocytopenia-absent radius (TAR) syndrome. No direct cilia length/ciliogenesis measurement reported; ciliary basis is functional (Hedgehog/ciliary-transcript regulation).