DISEASES

Disease-gene associations mined from literature

Literature associating ANKFY1 and hereditary sensory and autonomic neuropathy type 5

ANKFY1 [ENSP00000459943]

Rabankyrin-5; Proposed effector of Rab5. Binds to phosphatidylinositol 3- phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport.

Synonyms:  ANKFY1,  ANKFY1p,  hANKFY1,  I3L1Z9,  I3L3P8 ...

Linkouts:  STRING  Pharos  UniProt