MTCH1
mitochondrial carrier 1
Summary
This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1231975689 | 6:36,937,821 | A/C | — | uncertain significance |
| rs2482040783 | 6:36,938,225 | G/A | — | uncertain significance |
| rs775547171 | 6:36,940,501 | T/C | — | uncertain significance |
| rs733461 | 6:36,942,483 | A/G | intron variant | — |
| rs2482058837 | 6:36,943,482 | C/A | — | uncertain significance |
| rs530813530 | 6:36,943,960 | G/C | — | — |
| rs1763976983 | 6:36,946,360 | T/C | — | uncertain significance |
| rs368915787 | 6:36,949,414 | G/A | — | uncertain significance |
| rs11548581 | 6:36,953,658 | G/A | — | uncertain significance |
| rs2482099297 | 6:36,953,816 | G/A | — | uncertain significance |
| rs977375162 | 6:36,953,874 | C/A | — | uncertain significance |
| rs202185562 | 6:36,953,903 | G/C | — | uncertain significance |
| rs963123343 | 6:36,953,907 | C/A | — | uncertain significance |
| rs1033982796 | 6:36,953,922 | G/C | — | uncertain significance |
| rs1327358435 | 6:36,953,930 | T/A | — | uncertain significance |
| rs1049218663 | 6:36,953,945 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.