MCAT
malonyl-CoA-acyl carrier protein transacylase
Summary
The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77547475 | 22:43,529,061 | C/A | — | benign |
| rs140137125 | 22:43,529,094 | C/G | — | benign |
| rs1930497266 | 22:43,529,134 | A/G | — | uncertain significance |
| rs142380867 | 22:43,529,158 | C/T | — | uncertain significance |
| rs375520104 | 22:43,529,183 | C/T | — | uncertain significance |
| rs544744536 | 22:43,529,219 | C/T | — | uncertain significance |
| rs13815 | 22:43,529,314 | G/C | missense variant | — |
| rs377691255 | 22:43,529,377 | G/A | — | uncertain significance |
| rs201751229 | 22:43,529,393 | C/T | — | uncertain significance |
| rs2518100359 | 22:43,529,399 | C/T | — | pathogenic |
| rs760294168 | 22:43,529,410 | G/A | — | uncertain significance |
| rs1441190304 | 22:43,529,444 | T/C | — | likely benign |
| rs201441121 | 22:43,529,447 | G/A | — | uncertain significance |
| rs73886407 | 22:43,533,105 | C/G | — | benign |
| rs141635802 | 22:43,533,137 | C/T | — | uncertain significance |
| rs1459805027 | 22:43,533,163 | A/G | — | uncertain significance |
| rs149077997 | 22:43,533,181 | C/T | — | likely benign |
| rs759491564 | 22:43,533,182 | G/A | — | no classification for the single variant |
| rs115712685 | 22:43,537,092 | T/C | — | benign |
| rs2518107452 | 22:43,537,257 | T/C | — | pathogenic |
| rs1450834111 | 22:43,539,027 | G/A | — | uncertain significance |
| rs368993438 | 22:43,539,066 | C/A | — | uncertain significance |
| rs568778084 | 22:43,539,113 | A/C | — | no classification for the single variant |
| rs77536207 | 22:43,539,120 | G/C | — | likely benign |
| rs781317887 | 22:43,539,149 | C/G | — | uncertain significance |
| rs576774681 | 22:43,539,179 | G/A | — | uncertain significance |
| rs755221042 | 22:43,539,233 | T/A | — | uncertain significance |
| rs774125780 | 22:43,539,335 | C/G | — | uncertain significance |
| rs980107222 | 22:43,539,348 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.