VPS50

VPS50 (VPS50, EARP/GARPII Complex Subunit) is a Protein Coding gene.

VPS50, EARP/GARPII Complex Subunit

Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane. Within the EARP complex, required to tether the complex to recycling endosomes. Not involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN).

Biological Process endocytic recycling Source:MGI1 Publication
Biological Process protein transport Source:UniProtKB-KW

Recycling endosome
Membrane
Associates with membranes in an EIPR1-dependent manner.

Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (NEDMSC):
An autosomal recessive disorder with onset at birth, characterized by severe global developmental delay, profoundly impaired intellectual development, progressive microcephaly, seizures, and transient neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur.