Structural highlights
Disease
AFG2A_HUMAN Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome. The disease is caused by variants affecting the gene represented in this entry.
Function
AFG2A_HUMAN ATP-dependent chaperone, which plays an essential role in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024). Acts together with AFG2B, AIRIM and CINP (PubMed:35354024). May be involved in morphological and functional mitochondrial transformations during spermatogenesis (By similarity).[UniProtKB:Q3UMC0][1]
References
- ↑ Ni C, Schmitz DA, Lee J, Pawłowski K, Wu J, Buszczak M. Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly. Cell Rep. 2022 Mar 29;38(13):110597. PMID:35354024 doi:10.1016/j.celrep.2022.110597
