GEMIN6 is one of several gem-associated proteins found in the gems of Cajal bodies, which are subnuclear structures involved in the biogenesis and recycling of snRNPs. Other members of this complex include SMN, GEMIN2, GEMIN3, GEMIN4, and GEMIN5 . GEMIN6 interacts with GEMIN7, another component of the SMN complex, to facilitate the assembly and function of snRNPs .
The protein is characterized by its ability to bind to other proteins, and it is involved in various cellular processes, including mRNA processing, spliceosomal complex assembly, and RNA splicing . GEMIN6 is expressed in various tissues, including the islet of Langerhans, oocytes, adrenal glands, bronchial epithelial cells, liver, biceps brachii, monocytes, and stromal cells of the endometrium .
Recombinant human GEMIN6 is produced using recombinant DNA technology, where the GEMIN6 gene is cloned and expressed in a host organism, typically Escherichia coli (E. coli). The recombinant protein is then purified using conventional chromatography techniques. The recombinant version of GEMIN6 often includes a His-tag at the N-terminus to facilitate purification and detection .
The recombinant human GEMIN6 protein is used in various research applications to study its function, interactions, and role in the SMN complex. It is also used to investigate the molecular mechanisms underlying diseases associated with defects in the SMN complex, such as spinal muscular atrophy (SMA) .
Mutations or defects in the components of the SMN complex, including GEMIN6, can lead to severe neurodevelopmental disorders. For example, spinal muscular atrophy (SMA) is a genetic disorder characterized by the loss of motor neurons, leading to muscle weakness and atrophy. Understanding the role of GEMIN6 and other components of the SMN complex is crucial for developing therapeutic strategies for such disorders .