Predicted to enable metal ion binding activity. Involved in several processes, including autophagosome assembly; nervous system development; and positive regulation of organ growth. Located in lysosome; neuromuscular junction; and presynaptic active zone. Is expressed in several structures, including adult head; larval central nervous system; larval internal muscle motor neurons; larval muscle system; and spermatozoon. Used to study autism spectrum disorder and primary autosomal dominant microcephaly 18. Human ortholog(s) of this gene implicated in primary autosomal dominant microcephaly 18. Orthologous to human WDFY3 (WD repeat and FYVE domain containing 3).
FB Description
blue cheese (bchs) is a neuronally expressed gene that encodes a member of the BEACH (Beige and Chediak-Higashi)-domain superfamily, whose members are involved in vesicle trafficking. It antagonizes the activity of the product of Rab11. It serves as a scaffold for autophagy proteins, and contributes to ref(2)P-mediated aggrephagy. It contributes to nervous system development, lysosome transport and sphingolipid metabolism.