VPS50

Chr 7AR

VPS50 subunit of EARP/GARPII complex

Also known as: CCDC132, NEDMSC, VPS54L

NCBI Gene: 55610 ENSG00000004766 UniProt: Q96JG6 OMIM: 616465

The VPS50 protein is a component of the EARP complex that mediates endocytic recycling by tethering the complex to recycling endosomes and promoting recycling of internalized receptors like transferrin receptor to the plasma membrane. Biallelic mutations cause a neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, reflecting involvement of the nervous system, brain development, and hepatic function. This condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables SNARE binding activity. Acts upstream of or within endocytic recycling. Located in recycling endosome. Part of EARP complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasisMIM #619685

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

Mechanism· predicted