Synaptonemal complex central element protein 1 is a protein that in humans is encoded by the SYCE1 gene. [5]

Primary ovarian insufficiency can be caused by mutations in genes involved in essential steps in chromosome synapsis and recombination during meiosis. Mutation in the autosomal gene SYCE1 that encodes synaptonemal complex element 1 protein causes a primary ovarian insufficiency phenotype in humans.[6] This finding highlights the importance of the synaptonemal complex and meiosis for ovarian function.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171772 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025480 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Synaptonemal complex central element protein 1". Retrieved 2017-01-21.
  6. ^ de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L (October 2014). "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency". J. Clin. Endocrinol. Metab. 99 (10): E2129–32. doi:10.1210/jc.2014-1268. PMID 25062452.

Further reading

  • de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L (2014). "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency". J. Clin. Endocrinol. Metab. 99 (10): E2129–32. doi:10.1210/jc.2014-1268. PMID 25062452.