GTSF1 Human

GTSF1 is a member of the UPF0224 (FAM112) family and contains a CHHC-type zinc finger domain . The human recombinant form of GTSF1 is produced in Escherichia coli and is a single, non-glycosylated polypeptide chain containing 190 amino acids, with a molecular mass of approximately 21.7 kDa . The recombinant protein is fused to a 23 amino acid His-tag at the N-terminus to facilitate purification .

The primary function of GTSF1 is to support spermatogenesis by enabling the differentiation of germ cells and suppressing the transcription of retrotransposons, which are genetic elements that can move around and disrupt the genome . This suppression is crucial for maintaining the integrity of the genetic material in germ cells, ensuring the proper development of sperm cells .

GTSF1 is predominantly expressed in the cytoplasm of germ cells, particularly in the testes . Its expression is tightly regulated and is essential for the proper progression of spermatogenesis .

Mutations or dysregulation of the GTSF1 gene have been associated with certain genetic disorders, such as Cutis Laxa, Autosomal Recessive, Type IIIB, and Autosomal Recessive Cutis Laxa Type III . These conditions are characterized by abnormalities in connective tissue, leading to loose, sagging skin and other systemic issues .

The recombinant form of GTSF1 is produced using Escherichia coli expression systems. The protein is purified using proprietary chromatographic techniques to achieve a purity greater than 90% as determined by SDS-PAGE . The recombinant protein is typically formulated in a buffer containing Tris-HCl, NaCl, glycerol, and DTT to maintain stability .

GTSF1 (Human Recombinant) is used extensively in research to study the mechanisms of spermatogenesis and the role of retrotransposon suppression in germ cells. It is also used in various assays to understand the genetic and molecular basis of related disorders .