" /> Fibrocystin - CISMeF





Preferred Label : Fibrocystin;

NCIt synonyms : Polyductin; Tigmin; Polycystic Kidney and Hepatic Disease 1 Protein; PKHD1;

NCIt definition : Fibrocystin (4074 aa, 447 kDa) is encoded by the human PKHD1 gene. This protein may be involved in receptor signaling that promotes differentiation of the kidney and biliary system.;

NCIt note : Fibrocystin may undergo processing similar to Notch family proteins, including posttranslational convertase cleavage yielding a mature two chain form, followed by transmembrane domain shedding and gamma-secretase-dependent release of a intracellular carboxyl-terminal fragment that translocates to the nucleus. (OMIM);

NCI Metathesaurus CUI : CL552126;

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29/07/2025


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