Protein SIX6OS1 (SIX6OS1)

Protein SIX6OS1 (encoded by the SIX6OS1 or C14orf39 gene) is a meiosis-specific structural protein that constitutes part of the central element of the synaptonemal complex, a zipper-like protein scaffold necessary for proper pairing and synapsis of homologous chromosomes during meiotic prophase I. SIX6OS1 interacts specifically with SYCE1, another central element protein, and is essential for the appropriate progression of meiotic recombination as well as for fertility in both sexes. Mutations or loss of function in SIX6OS1 lead to defects in chromosome synapsis, meiotic arrest, and resultant infertility (both non-obstructive azoospermia and primary ovarian insufficiency). Additionally, certain genetic variants in SIX6OS1/C14orf39 influence human recombination rates, notably exhibiting sexual dimorphism in this effect[1][2][3]. SIX6OS1 is not a typical drug target receptor, enzyme, or transporter, but rather a structural meiotic protein, and no known drugs or biomarkers targeting it exist for therapeutic or diagnostic use.

Other names

C14orf39Chromosome 14 open reading frame 39POF18SPGF52Six6 opposite strand transcript 1six6os1protein SIX6OS1Six6os1