# The lack of homozygotes with a large deletion encompassing SPAG1 and POLR2K in primary ciliary dyskinesia patients suggests the lethal effect of the loss of POLR2K protein

**Authors:** Alicja Rabiasz, Monika Drobna-Śledzińska, Patrycja Kaźmierczak, Michał Witt, Ewa Ziętkiewicz

PMC · DOI: 10.1016/j.gendis.2025.101535 · Genes & Diseases · 2025-01-20

## Full-text entities

- **Genes:** SPAG1 (sperm associated antigen 1) [NCBI Gene 6674] {aka CILD28, CT140, DNAAF13, HEL-S-268, HSD-3.8, SP75}, GAPDH (glyceraldehyde-3-phosphate dehydrogenase) [NCBI Gene 2597] {aka G3PD, GAPD, HEL-S-162eP}, PMM2 (phosphomannomutase 2) [NCBI Gene 5373] {aka CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2}, POLR2K (RNA polymerase II, I and III subunit K) [NCBI Gene 5440] {aka ABC10-alpha, RPABC4, RPB10alpha, RPB12, RPB7.0, hRPB7.0}, POLR2A (RNA polymerase II subunit A) [NCBI Gene 5430] {aka NEDHIB, POLR2, POLRA, RPB1, RPBh1, RPO2}, AGO2 (argonaute RISC catalytic component 2) [NCBI Gene 27161] {aka CASC7, EIF2C2, LESKRES, LINC00980, PPD, Q10}
- **Diseases:** PCD (MESH:D002925), deficiency of (MESH:D007153), Cancer (MESH:D009369), carbohydrate-deficient glycoprotein syndrome type 1A (MESH:C535739), death (MESH:D003643), inherited disorder (MESH:D030342)
- **Chemicals:** eGFP (-)
- **Species:** Homo sapiens (human, species) [taxon 9606], Danio rerio (leopard danio, species) [taxon 7955], Schmidtea mediterranea (freshwater planarian, species) [taxon 79327], Platyhelminthes (flatworm, phylum) [taxon 6157]
- **Mutations:** R141H, c.140 + 1169]del, p.Gln672*, c.2014C>T
- **Cell lines:** HEK293T — Homo sapiens (Human), Transformed cell line (CVCL_0063)

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## References

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Source: https://tomesphere.com/paper/PMC12311433