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coiled-coil domain-containing protein 201 (CCDC201)

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]

Properties

GENERAL: coiled-coil domain-containing protein SIZE: entity length = 187 aa MW = 21 kD FORM: coiled-coil domain-containing protein 201 MOTIF: coiled coil

Database Correlations

UniProt A0A1B0GTI1 ENZYME

References

  1. UniProt :accession A0A1B0GTI1
  2. 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: 39192094 https://www.nature.com/articles/s41588-024-01885-6