coiled-coil domain-containing protein 201 (CCDC201)

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Genetics

  • women homozygous for truncated variant in CCDC201 (Arg162Ter) reached menopause 9 years earlier than other women
    • minor allele frequency ~1%
    • present in one in 10,000 northern European women[2]

More general terms

References

  1. UniProt http://www.uniprot.org/uniprot/A0A1B0GTI1.html
  2. 2.0 2.1 Oddsson A, Steinthorsdottir V, Oskarsson GR et al Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency. Nat Genet. 2024 Sep;56(9):1804-1810. PMID: https://www.ncbi.nlm.nih.gov/pubmed/39192094 https://www.nature.com/articles/s41588-024-01885-6

Database