DISEASES

Disease-gene associations mined from literature

Literature associating PKHD1 and polycystic liver disease

PKHD1 [ENSP00000360158]

Polycystic kidney and hepatic disease 1 (autosomal recessive); May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation.

Synonyms:  PKHD1p,  hPKHD1,  P08F94,  FCYT,  P08F94p ...

Linkouts:  STRING  Pharos  UniProt  OMIM