Disease-gene associations mined from literature

Literature associating ZFYVE20 and severe congenital neutropenia 5

ZFYVE20 [ENSP00000253699]

FYVE finger-containing Rab5 effector protein rabenosyn-5; Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3). Plays a role in the recycling of transferrin receptor to the plasma membrane.

Synonyms:  ZFYVE20,  ZFYVE20p,  hZFYVE20,  A0A024R2H4,  C9JZZ1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM