XB-GENEPAGE-854494
???displayGene.symbol???:
pkhd1
???displayGene.name???:
PKHD1, fibrocystin/polyductin
???displayGene.synonyms???
arpkd
,
fcyt
,
tigm1
(
Nomenclature history )
AI Protein Function
:
pkhd1 encodes a large single‑pass transmembrane protein (fibrocystin) that localizes to the primary cilium and basal body of epithelial cells; it functions in the regulation of tubular epithelial morph...[+]
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Diseases:
Disease Ontology:
Caroli disease
MIM:
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4
External Links:
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