VPS35L

Chr 16AR

VPS35 endosomal protein sorting factor like

Also known as: C16orf62, EC97, RTSC3

NCBI Gene: 57020 ENSG00000103544 UniProt: Q7Z3J2 OMIM: 618981

The protein acts as a component of the retriever complex, which is essential for endosomal cargo retrieval and recycling, including transport of cell surface proteins involved in cell migration, adhesion, and signaling. Mutations cause Ritscher-Schinzel syndrome, which is inherited in an autosomal recessive pattern and typically presents in early childhood with characteristic craniofacial features, cardiac defects, and intellectual disability. This gene is highly constrained against loss-of-function variants (LOEUF 0.573), indicating that complete loss of protein function is likely not tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Involved in Golgi to plasma membrane transport and endocytic recycling. Located in endosome. Part of protein-containing complex. Implicated in Ritscher-Schinzel syndrome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…