CHMP4C
charged multivesicular body protein 4C
Summary
CHMP4C 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 Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373753581 | 8:82,644,916 | G/C | — | uncertain significance |
| rs372923421 | 8:82,644,979 | C/G | — | uncertain significance |
| rs199524691 | 8:82,645,033 | G/C | — | uncertain significance |
| rs11782652 | 8:82,653,644 | A/T | — | — |
| rs199634702 | 8:82,665,301 | G/A | — | uncertain significance |
| rs1192981623 | 8:82,665,414 | C/A | — | uncertain significance |
| rs2487881638 | 8:82,665,436 | G/A | — | uncertain significance |
| rs74758321 | 8:82,667,320 | A/G | intron variant | — |
| rs759070538 | 8:82,667,607 | A/G | — | uncertain significance |
| rs774996178 | 8:82,670,377 | G/A | — | uncertain significance |
| rs754064419 | 8:82,670,429 | A/G | — | uncertain significance |
| rs984635802 | 8:82,670,441 | T/C | — | uncertain significance |
| rs142794802 | 8:82,670,444 | G/A | — | uncertain significance |
| rs765034377 | 8:82,670,519 | G/A | — | uncertain significance |
| rs562691343 | 8:82,670,525 | G/A | — | uncertain significance |
| rs35094336 | 8:82,670,771 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.