RecName: Full=Ankyrin repeat and SAM domain-containing protein 6; AltN - Protein

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Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation. [Hum Mol Genet. 2022]
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
Schwarz H, Popp B, Airik R, Torabi N, Knaup KX, Stoeckert J, Wiech T, Amann K, Reis A, Schiffer M, et al. Hum Mol Genet. 2022 May 4; 31(9):1357-1369.
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. [J Am Soc Nephrol. 2014]
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
Taskiran EZ, Korkmaz E, Gucer S, Kosukcu C, Kaymaz F, Koyunlar C, Bryda EC, Chaki M, Lu D, Vadnagara K, et al. J Am Soc Nephrol. 2014 Aug; 25(8):1653-61. Epub 2014 Mar 7.
The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes. [Kidney Int. 2015]
The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes.
Bakey Z, Bihoreau MT, Piedagnel R, Delestré L, Arnould C, de Villiers Ad, Devuyst O, Hoffmann S, Ronco P, Gauguier D, et al. Kidney Int. 2015 Aug; 88(2):299-310. Epub 2015 Jun 3.

RefSeq genomic sequence
See the genomic reference sequence for the ANKS6 gene (NG_042237.1).
RefSeq protein
See the reference protein sequence for ankyrin repeat and SAM domain-containing protein 6 (NP_775822.3).

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Q68DC2 [Domain Mapping of Disease Mut...]
Q68DC2
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
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RecName: Full=Ankyrin repeat and SAM domain-containing protein 6; AltName: Full=...
RecName: Full=Ankyrin repeat and SAM domain-containing protein 6; AltName: Full=Ankyrin repeat domain-containing protein 14; AltName: Full=SamCystin; AltName: Full=Sterile alpha motif domain-containing protein 6; Short=SAM domain-containing protein 6
gi|83305683|sp|Q68DC2.2|ANKS6_HUMAN

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