ATPase family gene 2 protein homolog B (AFG2B)

ATPase family gene 2 protein homolog B (AFG2B, also known as SPATA5L1) is a member of the AAA+ ATPase family, which comprises energy-dependent molecular machines involved in the remodeling, unfolding, or disassembly of protein complexes[5][1]. In humans, SPATA5L1 forms a heterohexameric complex with SPATA5, C1orf109, and CINP, functioning as a protein unfoldase that participates in ribosome biogenesis and DNA replication processes[2][4]. Specifically, this complex facilitates the release of assembly factors from pre-60S ribosomal subunits in the cytoplasm and mediates proteolytic turnover of replisome substrates during DNA replication—critical for maintaining genome stability[2][4]. Pathogenic mutations in SPATA5L1 disrupt complex assembly and activity, leading to neurodevelopmental syndromes characterized by intellectual disability, epilepsy, hearing loss, and other features. AFG2B does not have established drug interactions or mechanisms of therapeutic targeting in current literature, but its central role in ribosomal and replication proteostasis makes it a mechanistically interesting, albeit challenging, potential target for therapeutic intervention[2][4]. The nomenclature for this molecule is inconsistent in public databases and literature, frequently conflating SPATA5L1 (a distinct protein) and "AFG2B" (which is not a widely accepted gene symbol; most canonical sources use SPATA5L1). Therefore, both the abbreviation and some aliases should be treated with caution, and this may complicate attempts at systematic targeting or biomarker development.

Other names

SPATA5L1MGC5347FLJ12286Ribosome biogenesis protein SPATA5L1Spermatogenesis-associated protein 5-like protein 1DFNB119NEDHLSATPase family gene 2 protein homolog Bribosome biogenesis protein SPATA5L1spermatogenesis-associated protein 5-like protein 1AFG2B