ACLY
ATP citrate lyase
Summary
ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs782451369 | 17:40,025,018 | A/G | — | uncertain significance |
| rs2544524378 | 17:40,025,765 | C/T | — | uncertain significance |
| rs7209507 | 17:40,027,651 | A/C | — | — |
| rs387907388 | 17:40,027,984 | C/T | — | uncertain significance |
| rs1555625087 | 17:40,028,010 | T/C | — | uncertain significance |
| rs2544531555 | 17:40,028,292 | A/G | — | uncertain significance |
| rs387907385 | 17:40,028,331 | G/A | — | uncertain significance |
| rs1555625542 | 17:40,030,147 | G/C | — | uncertain significance |
| rs536517193 | 17:40,034,423 | T/C | — | uncertain significance |
| rs35022178 | 17:40,034,431 | G/A | — | benign |
| rs1555626502 | 17:40,034,438 | T/C | — | uncertain significance |
| rs371847332 | 17:40,035,146 | T/C | — | uncertain significance |
| rs782677992 | 17:40,039,419 | C/T | — | uncertain significance |
| rs141297025 | 17:40,039,454 | C/T | — | uncertain significance |
| rs200021365 | 17:40,040,456 | A/G | — | uncertain significance |
| rs2544568483 | 17:40,040,517 | A/G | — | uncertain significance |
| rs532952188 | 17:40,040,522 | G/A | — | uncertain significance |
| rs148168367 | 17:40,042,392 | T/C | — | likely benign |
| rs2544573444 | 17:40,042,489 | T/G | — | uncertain significance |
| rs781783769 | 17:40,042,550 | G/C | — | uncertain significance |
| rs782598021 | 17:40,043,868 | A/C | — | uncertain significance |
| rs782309233 | 17:40,043,883 | T/A | — | uncertain significance |
| rs781983403 | 17:40,043,902 | G/T | — | uncertain significance |
| rs946866792 | 17:40,043,944 | C/T | — | uncertain significance |
| rs387907381 | 17:40,048,537 | C/T | — | uncertain significance |
| rs368294825 | 17:40,048,632 | G/A | — | uncertain significance |
| rs149936488 | 17:40,048,652 | G/A | — | benign |
| rs2544596968 | 17:40,049,305 | C/T | — | uncertain significance |
| rs387907386 | 17:40,049,403 | C/T | — | uncertain significance |
| rs782186117 | 17:40,054,017 | G/C | — | uncertain significance |
| rs387907379 | 17:40,054,036 | C/T | — | uncertain significance |
| rs781966325 | 17:40,054,041 | C/T | — | uncertain significance |
| rs146823754 | 17:40,054,885 | G/A | — | uncertain significance |
| rs2544615488 | 17:40,054,928 | C/T | — | uncertain significance |
| rs781923056 | 17:40,054,957 | C/T | — | uncertain significance |
| rs387907382 | 17:40,058,010 | T/G | — | uncertain significance |
| rs1555631667 | 17:40,058,042 | A/C | — | uncertain significance |
| rs138293941 | 17:40,058,051 | T/C | — | uncertain significance |
| rs143406536 | 17:40,061,793 | G/C | — | uncertain significance |
| rs140050646 | 17:40,061,836 | C/T | — | benign |
| rs62076883 | 17:40,062,774 | T/C | — | benign |
| rs115877497 | 17:40,062,789 | G/A | — | benign |
| rs769677609 | 17:40,062,840 | C/G | — | likely benign |
| rs387907383 | 17:40,062,858 | G/A | — | uncertain significance |
| rs2049756058 | 17:40,063,728 | G/T | — | uncertain significance |
| rs549516701 | 17:40,063,733 | C/T | — | uncertain significance |
| rs387907387 | 17:40,063,790 | C/T | — | uncertain significance |
| rs372205779 | 17:40,065,782 | C/A | — | uncertain significance |
| rs782758020 | 17:40,065,809 | C/A | — | uncertain significance |
| rs782467741 | 17:40,065,833 | C/T | — | uncertain significance |
| rs387907384 | 17:40,065,834 | G/T | — | uncertain significance |
| rs2544653377 | 17:40,065,848 | T/G | — | uncertain significance |
| rs782128270 | 17:40,065,890 | C/T | — | uncertain significance |
| rs782804144 | 17:40,065,914 | C/T | — | uncertain significance |
| rs558283153 | 17:40,065,928 | T/C | — | uncertain significance |
| rs782275584 | 17:40,068,674 | G/A | — | uncertain significance |
| rs781834702 | 17:40,068,731 | T/G | — | uncertain significance |
| rs782360379 | 17:40,068,762 | G/A | — | uncertain significance |
| rs200879681 | 17:40,070,098 | G/A | — | uncertain significance |
| rs387907380 | 17:40,075,176 | G/A | — | uncertain significance |
| rs4796622 | 17:40,078,224 | A/G | upstream gene variant | — |
| rs886037888 | 17:40,087,091 | G/T | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.