ABCB8
ATP binding cassette subfamily B member 8
Summary
This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750232334 | 7:150,725,622 | G/T | — | uncertain significance |
| rs1221559886 | 7:150,725,663 | C/T | — | uncertain significance |
| rs1796036845 | 7:150,725,680 | G/T | — | uncertain significance |
| rs6975981 | 7:150,730,712 | G/A | — | benign |
| rs566864336 | 7:150,730,732 | G/A | — | uncertain significance |
| rs773593647 | 7:150,730,772 | G/A | — | uncertain significance |
| rs1796227739 | 7:150,730,835 | G/T | — | uncertain significance |
| rs145393109 | 7:150,730,899 | C/T | — | benign |
| rs149897534 | 7:150,730,926 | C/T | — | benign |
| rs117793104 | 7:150,730,966 | C/G | — | benign |
| rs1396411687 | 7:150,731,369 | G/A | — | uncertain significance |
| rs150872185 | 7:150,731,381 | G/A | — | uncertain significance |
| rs756716622 | 7:150,731,417 | G/T | — | uncertain significance |
| rs7776772 | 7:150,731,519 | C/T | — | benign |
| rs114212581 | 7:150,731,630 | C/T | — | benign |
| rs1249215292 | 7:150,731,632 | T/C | — | uncertain significance |
| rs190274756 | 7:150,732,729 | G/A | — | uncertain significance |
| rs1221093873 | 7:150,732,731 | C/G | — | uncertain significance |
| rs779358458 | 7:150,732,741 | T/C | — | uncertain significance |
| rs774009449 | 7:150,732,789 | G/T | — | uncertain significance |
| rs758830222 | 7:150,732,813 | G/T | — | uncertain significance |
| rs2486344509 | 7:150,732,975 | A/G | — | uncertain significance |
| rs371323931 | 7:150,733,160 | G/T | — | uncertain significance |
| rs755902689 | 7:150,733,212 | C/T | — | uncertain significance |
| rs772790561 | 7:150,733,633 | A/G | — | uncertain significance |
| rs540782181 | 7:150,737,603 | G/T | — | uncertain significance |
| rs200904308 | 7:150,737,673 | C/G | — | uncertain significance |
| rs61652080 | 7:150,737,688 | G/T | — | benign |
| rs572070568 | 7:150,737,696 | G/A | — | likely benign |
| rs561955380 | 7:150,737,925 | C/T | — | uncertain significance |
| rs757227667 | 7:150,737,937 | G/A | — | uncertain significance |
| rs149742369 | 7:150,737,991 | G/A | — | uncertain significance |
| rs1796449627 | 7:150,738,189 | A/G | — | uncertain significance |
| rs747784375 | 7:150,738,224 | G/A | — | uncertain significance |
| rs764578962 | 7:150,739,121 | T/G | — | uncertain significance |
| rs148191540 | 7:150,739,135 | C/G | — | uncertain significance |
| rs374442680 | 7:150,739,136 | G/A | — | likely benign |
| rs780004246 | 7:150,739,142 | C/T | — | uncertain significance |
| rs150297725 | 7:150,739,153 | G/A | — | uncertain significance |
| rs565354105 | 7:150,739,174 | G/A | — | uncertain significance |
| rs774677160 | 7:150,741,097 | G/A | — | uncertain significance |
| rs773629777 | 7:150,741,108 | G/A | — | uncertain significance |
| rs2486379818 | 7:150,741,114 | G/T | — | uncertain significance |
| rs748225363 | 7:150,741,184 | G/A | — | uncertain significance |
| rs78465761 | 7:150,741,191 | A/G | — | benign |
| rs144753694 | 7:150,741,193 | A/G | — | uncertain significance |
| rs1796552752 | 7:150,741,282 | G/A | — | uncertain significance |
| rs375280513 | 7:150,741,297 | C/T | — | likely benign |
| rs144165657 | 7:150,742,328 | C/T | — | likely benign |
| rs780299935 | 7:150,742,329 | G/A | — | uncertain significance |
| rs2117247026 | 7:150,742,330 | G/A | — | uncertain significance |
| rs141053127 | 7:150,742,384 | C/T | — | uncertain significance |
| rs747835600 | 7:150,742,390 | C/T | — | uncertain significance |
| rs1796585744 | 7:150,742,399 | A/C | — | uncertain significance |
| rs776462673 | 7:150,742,417 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.