CPT1B
carnitine palmitoyltransferase 1B
Summary
The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150762471 | 22:51,007,772 | T/G | — | uncertain significance |
| rs138045495 | 22:51,007,776 | G/C | — | benign |
| rs1469762800 | 22:51,007,777 | G/A | — | uncertain significance |
| rs2522649831 | 22:51,007,798 | T/C | — | uncertain significance |
| rs375316854 | 22:51,007,841 | G/A | — | uncertain significance |
| rs550207536 | 22:51,008,006 | G/A | — | uncertain significance |
| rs933303732 | 22:51,008,780 | C/T | — | uncertain significance |
| rs770313882 | 22:51,008,800 | C/G | — | uncertain significance |
| rs186124477 | 22:51,009,310 | C/T | — | likely benign |
| rs376060651 | 22:51,009,343 | C/G | — | uncertain significance |
| rs749903461 | 22:51,009,400 | C/T | — | uncertain significance |
| rs1192850527 | 22:51,009,406 | T/C | — | uncertain significance |
| rs767195024 | 22:51,009,414 | C/T | — | uncertain significance |
| rs41309651 | 22:51,009,487 | C/T | — | benign |
| rs563717431 | 22:51,009,594 | G/A | — | uncertain significance |
| rs377156417 | 22:51,009,601 | C/T | — | uncertain significance |
| rs571519095 | 22:51,009,645 | C/T | — | uncertain significance |
| rs745866439 | 22:51,009,669 | C/G | — | uncertain significance |
| rs764845864 | 22:51,009,717 | C/T | — | likely benign |
| rs577490693 | 22:51,009,861 | C/A | — | uncertain significance |
| rs963608633 | 22:51,009,872 | G/C | — | uncertain significance |
| rs541606300 | 22:51,009,902 | A/C | — | uncertain significance |
| rs200572653 | 22:51,009,938 | C/T | — | uncertain significance |
| rs2522682581 | 22:51,010,518 | A/G | — | uncertain significance |
| rs150817976 | 22:51,010,636 | C/T | — | uncertain significance |
| rs112259265 | 22:51,010,668 | C/T | — | benign |
| rs1317553931 | 22:51,010,715 | G/C | — | uncertain significance |
| rs1194084589 | 22:51,010,721 | A/G | — | uncertain significance |
| rs115830405 | 22:51,010,743 | G/A | — | benign |
| rs131761 | 22:51,010,788 | T/C | — | — |
| rs757683021 | 22:51,011,314 | A/G | — | uncertain significance |
| rs144799109 | 22:51,011,322 | T/C | — | uncertain significance |
| rs868445792 | 22:51,011,365 | C/T | — | uncertain significance |
| rs546597240 | 22:51,011,379 | T/G | — | uncertain significance |
| rs757229551 | 22:51,011,415 | C/T | — | uncertain significance |
| rs745702877 | 22:51,011,419 | C/T | — | uncertain significance |
| rs150309698 | 22:51,011,469 | C/T | — | uncertain significance |
| rs2522699190 | 22:51,011,964 | A/G | — | uncertain significance |
| rs754689979 | 22:51,011,980 | C/T | — | uncertain significance |
| rs1470088581 | 22:51,012,085 | A/G | — | uncertain significance |
| rs765350347 | 22:51,012,118 | G/A | — | uncertain significance |
| rs768735815 | 22:51,012,805 | T/C | — | uncertain significance |
| rs76233096 | 22:51,012,854 | G/A | — | benign |
| rs1213966936 | 22:51,012,956 | T/C | — | uncertain significance |
| rs1003036601 | 22:51,012,962 | A/T | — | uncertain significance |
| rs201673605 | 22:51,012,969 | C/T | — | uncertain significance |
| rs200933686 | 22:51,012,974 | A/G | — | uncertain significance |
| rs777526020 | 22:51,012,989 | C/T | — | uncertain significance |
| rs745583431 | 22:51,013,002 | C/T | — | uncertain significance |
| rs17848457 | 22:51,013,003 | G/A | — | benign |
| rs2522713225 | 22:51,013,013 | T/C | — | likely benign |
| rs141837905 | 22:51,014,487 | C/T | — | uncertain significance |
| rs373214555 | 22:51,014,507 | C/T | — | uncertain significance |
| rs2522727276 | 22:51,014,514 | A/G | — | uncertain significance |
| rs755817678 | 22:51,014,748 | C/T | — | uncertain significance |
| rs147502032 | 22:51,014,966 | C/T | — | likely benign |
| rs1174059011 | 22:51,014,991 | G/A | — | uncertain significance |
| rs761355935 | 22:51,015,042 | G/A | — | uncertain significance |
| rs748462473 | 22:51,015,074 | T/C | — | likely benign |
| rs1475327721 | 22:51,015,294 | T/G | — | uncertain significance |
| rs781052948 | 22:51,015,341 | T/C | — | uncertain significance |
| rs371625675 | 22:51,015,365 | G/A | — | uncertain significance |
| rs150050955 | 22:51,015,371 | C/G | — | uncertain significance |
| rs199841221 | 22:51,015,389 | G/A | — | uncertain significance |
| rs773906317 | 22:51,015,435 | G/A | — | uncertain significance |
| rs2146640295 | 22:51,015,447 | T/C | — | uncertain significance |
| rs745528078 | 22:51,015,795 | G/A | — | uncertain significance |
| rs769084833 | 22:51,015,805 | C/A | — | uncertain significance |
| rs752292581 | 22:51,016,232 | G/A | — | uncertain significance |
| rs372094766 | 22:51,016,241 | C/G | — | uncertain significance |
| rs747237718 | 22:51,016,327 | C/G | — | uncertain significance |
| rs1409491190 | 22:51,016,340 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.