VPS28

Chr 8

VPS28 subunit of ESCRT-I

Also known as: CIIA

NCBI Gene: 51160 ENSG00000160948 UniProt: Q9UK41 OMIM: 611952

This gene encodes a protein subunit of the ESCRT-I complex that functions in transport and sorting of proteins into subcellular vesicles. Mutations cause autosomal recessive microcephaly, seizures, and developmental delay. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting of proteins into subcellular vesicles. This complex can also be hijacked to facilitate the budding of enveloped viruses from the cell membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

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

0.74

LOEUF

Mechanism· predicted