CHMP5
charged multivesicular body protein 5
Summary
CHMP5 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]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs745517732 | 9:33,265,086 | C/T | — | likely benign |
| rs1820691841 | 9:33,265,144 | C/T | — | uncertain significance |
| rs146626883 | 9:33,266,075 | A/C | — | uncertain significance |
| rs2489340470 | 9:33,266,090 | A/G | — | uncertain significance |
| rs71525242 | 9:33,269,142 | T/C | upstream gene variant | — |
| rs367617638 | 9:33,270,634 | C/T | — | uncertain significance |
| rs761586215 | 9:33,271,182 | G/T | — | uncertain significance |
| rs1820855999 | 9:33,276,470 | T/C | — | uncertain significance |
| rs1193046940 | 9:33,276,472 | G/C | — | uncertain significance |
| rs751881602 | 9:33,276,494 | A/G | — | uncertain significance |
| rs768651661 | 9:33,276,558 | A/T | — | uncertain significance |
| rs770502719 | 9:33,278,153 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.