RecName: Full=Dynein axonemal assembly factor 6; AltName: Full=PIH1 do - Protein

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Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. [J Med Genet. 2024]
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Thomas L, Cuisset L, Papon JF, Tamalet A, Pin I, Abou Taam R, Faucon C, Montantin G, Tissier S, Duquesnoy P, et al. J Med Genet. 2024 May 21; 61(6):595-604. Epub 2024 May 21.
Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome. [Asian J Androl. 2021]
Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome.
Huang C, Liu NC, Wang XB, Gu BH, Zhang JX, Li-Zhang, Li Z. Asian J Androl. 2021 May-Jun; 23(3):330-332.
[Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia].
Wang S, Li B, Chen Y, Zhou Z, Bao R. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10; 37(9):1021-1024.

RefSeq protein isoforms
See 2 reference sequence protein isoforms for the DNAAF6 gene.

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Q9NQM4 [Domain Mapping of Disease Mut...]
Q9NQM4
Domain Mapping of Disease Mutations
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

RecName: Full=Dynein axonemal assembly factor 6; AltName: Full=PIH1 domain-conta...
RecName: Full=Dynein axonemal assembly factor 6; AltName: Full=PIH1 domain-containing protein 3; AltName: Full=Sarcoma antigen NY-SAR-97
gi|71153251|sp|Q9NQM4.1|DAAF6_HUMAN

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