基因名：
GEMIN4
产品别名：
HC56； HCAP1； HHRF-1； NEDMCR； p97； GEMIN4； gem nuclear organelle associated protein 4； gem nuclear organelle associated protein 4； gem-associated protein 4； HCC-associated protein 1； component of gems 4； gemin-4； 脊髓性肌萎缩症蛋白Gemin4；
背景信息：
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.
