CHMP1B charged multivesicular body protein 1B
Gene ID: 57132, updated on 28-Oct-2024Gene type: protein coding
Also known as: Vps46B; C10orf2; C18orf2; CHMP1.5; Vps46-2; C18-ORF2; hVps46-2
- See all available tests in GTR for this gene
- Go to complete Gene record for CHMP1B
- Go to Variation Viewer for CHMP1B variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of exercise behavior in Dutch and American adults. GeneReviews: Not available |
Genomic context
- Location:
- 18p11.21
- Sequence:
- Chromosome: 18; NC_000018.10 (11851413..11854444)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHMP1B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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