CHMP1B

Chr 18

charged multivesicular body protein 1B

Also known as: C10orf2, C18-ORF2, C18orf2, CHMP1.5, Vps46-2, Vps46B, hVps46-2

NCBI Gene: 57132 ENSG00000255112 UniProt: Q7LBR1

CHMP1B encodes a component of the ESCRT-III complex that mediates endosomal cargo sorting into multivesicular bodies for lysosomal degradation and functions in cytokinesis during cell division. Mutations cause autosomal recessive pontocerebellar hypoplasia type 8, a severe neurodevelopmental disorder with microcephaly, cerebellar hypoplasia, and progressive neurodegeneration typically manifesting in infancy. The gene shows moderate constraint against loss-of-function variation (pLI 0.73, LOEUF 0.69), consistent with its essential cellular functions.

ResearchSummary from RefSeq, UniProt

CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)