Description
Product Characteristics:
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord. SMA is caused by deletion or loss-of-function mutations in the SMN (Survival of Motor Neuron) gene. Gemin6, the protein product of human chromosome 2p22.2, associates directly with SMN and is a part of the SMN complex containing Gemin2, Gemin3, Gemin4 and Gemin5 as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (Gemini of the coiled bodies).
Subcellular location: Cytoplasm, Nucleus
Synonyms: FLJ23459, Gemin6, Gemin-6, Gem nuclear organelle associated protein 6, Gem-associated protein 6, GEMI6, GEMI6_HUMAN, Gemin-6, GEMIN6, SIP2.
Target Information: GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1\, MIM 602595), GEMIN3 (DDX20\, MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]