RecName: Full=Fibrocystin; AltName: Full=Polycystic kidney and hepatic - Protein

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Rare variants in PKHD1 associated with Caroli syndrome: Two case reports. [Mol Genet Genomic Med. 2022]
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.
Giacobbe C, Di Dato F, Palma D, Amitrano M, Iorio R, Fortunato G. Mol Genet Genomic Med. 2022 Aug; 10(8):e1998. Epub 2022 Jun 17.
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes. [Clin Exp Nephrol. 2022]
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
Ishiko S, Morisada N, Kondo A, Nagai S, Aoto Y, Okada E, Rossanti R, Sakakibara N, Nagano C, Horinouchi T, et al. Clin Exp Nephrol. 2022 Feb; 26(2):140-153. Epub 2021 Sep 18.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. [Kidney Int. 2021]
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, et al. Kidney Int. 2021 Sep; 100(3):650-659. Epub 2021 Apr 30.

RefSeq genomic sequence
See the genomic reference sequence for the PKHD1 gene (NG_008753.1).
RefSeq protein isoforms
See 42 reference sequence protein isoforms for the PKHD1 gene.

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P08F94 [Domain Mapping of Disease Mut...]
P08F94
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein