Gemin4, Gemin-4, Component of gems 4, Gem associated protein 4, HC56, HHRF 1, GEMI4_HUMAN.
Gemin4 is a component of the SMN core complex which, while in the cytoplasm, plays an essential role in ribonucleoprotein (snRNP) assembly, including the biogenesis, delivery and recycling of snRNPs to the spliceosome. In the nucleus, where SMN is required for pre-mRNA splicing, Gemin4 concentrates next to coiled bodies in subnuclear structures called gems, that are highly enriched in splicosomal snRNPs, and in the nucleolus. Deletion or loss-of-function mutations in the SMN lead to the neurodegenerative disease spinal muscular atrophy (SMA). The human Gemin4 maps to chromosome 17p13.
