RecName: Full=Abscission/NoCut checkpoint regulator; Short=ANCHR; AltN - Protein

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A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant. [Orphanet J Rare Dis. 2021]
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.
Mandato C, Siano MA, Nazzaro L, Gelzo M, Francalanci P, Rizzo F, D'Agostino Y, Morleo M, Brillante S, Weisz A, et al. Orphanet J Rare Dis. 2021 Apr 14; 16(1):179. Epub 2021 Apr 14.
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis. [J Med Genet. 2021]
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.
Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q, Xie XB, et al. J Med Genet. 2021 Aug; 58(8):514-525. Epub 2020 Jul 31.
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death. [J Med Genet. 2024]
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death.
Yang J, Zhang YN, Wang RX, Hao CZ, Qiu Y, Chi H, Luan WS, Tang H, Zhang XJ, Sun X, et al. J Med Genet. 2024 Jul 19; 61(8):750-758. Epub 2024 Jul 19.

RefSeq protein isoforms
See 8 reference sequence protein isoforms for the ZFYVE19 gene.

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Q96K21 [Domain Mapping of Disease Mut...]
Q96K21
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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reagent reviews [ExactAntigen/Labome]
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

RecName: Full=Abscission/NoCut checkpoint regulator; Short=ANCHR; AltName: Full=...
RecName: Full=Abscission/NoCut checkpoint regulator; Short=ANCHR; AltName: Full=MLL partner containing FYVE domain; AltName: Full=Zinc finger FYVE domain-containing protein 19
gi|296453076|sp|Q96K21.3|ANCHR_HUMA

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