MLX
MAX dimerization protein MLX
Summary
The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140709867 | 17:40,717,686 | C/T | missense variant | pathogenic |
| rs754191585 | 17:40,719,164 | C/A | — | uncertain significance |
| rs999925774 | 17:40,719,208 | C/T | — | likely benign |
| rs1429703394 | 17:40,719,250 | C/T | — | likely benign |
| rs755439287 | 17:40,719,269 | C/T | — | uncertain significance |
| rs752356404 | 17:40,719,275 | T/C | — | uncertain significance |
| rs190987287 | 17:40,719,669 | C/T | — | benign |
| rs776114176 | 17:40,720,491 | T/A | — | uncertain significance |
| rs769122835 | 17:40,720,500 | A/G | — | uncertain significance |
| rs1264426750 | 17:40,720,506 | C/T | — | uncertain significance |
| rs761458396 | 17:40,720,508 | C/T | — | uncertain significance |
| rs2093018036 | 17:40,720,512 | A/G | — | uncertain significance |
| rs752476588 | 17:40,720,543 | C/T | — | likely benign |
| rs201079657 | 17:40,720,544 | G/A | — | uncertain significance |
| rs2510691747 | 17:40,720,548 | C/T | — | uncertain significance |
| rs646123 | 17:40,720,632 | G/A | downstream gene variant | — |
| rs370634053 | 17:40,720,850 | C/T | — | likely benign |
| rs650558 | 17:40,721,042 | C/T | downstream gene variant | — |
| rs2510693736 | 17:40,721,613 | G/C | — | uncertain significance |
| rs665268 | 17:40,722,029 | A/G | — | benign |
| rs1374660839 | 17:40,722,045 | A/C | — | uncertain significance |
| rs2010750 | 17:40,723,391 | C/T | downstream gene variant | — |
| rs2093032811 | 17:40,723,581 | T/C | — | uncertain significance |
| rs762127321 | 17:40,723,584 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.