ACMSD
aminocarboxymuconate semialdehyde decarboxylase
Summary
The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1378709017 | 2:135,596,260 | T/C | — | uncertain significance |
| rs199786838 | 2:135,596,266 | T/C | — | uncertain significance |
| rs41320845 | 2:135,596,285 | A/T | — | benign |
| rs7608700 | 2:135,597,764 | C/A | — | — |
| rs17322446 | 2:135,598,913 | G/A | intron variant | — |
| rs10198552 | 2:135,599,876 | T/C | regulatory region variant | — |
| rs2121337 | 2:135,600,925 | T/C | intron variant | — |
| rs17322550 | 2:135,601,524 | T/A | intron variant | — |
| rs2467279276 | 2:135,602,807 | T/A | — | uncertain significance |
| rs1686995402 | 2:135,602,821 | T/C | — | uncertain significance |
| rs4954189 | 2:135,607,333 | G/T | — | — |
| rs10432370 | 2:135,607,854 | C/G | — | — |
| rs6430548 | 2:135,612,439 | G/T | — | — |
| rs6430549 | 2:135,616,346 | A/G | downstream gene variant | — |
| rs755224773 | 2:135,616,841 | A/C | — | uncertain significance |
| rs539329795 | 2:135,616,845 | G/T | — | uncertain significance |
| rs755651330 | 2:135,620,985 | A/C | — | uncertain significance |
| rs753561448 | 2:135,620,997 | G/C | — | uncertain significance |
| rs147728377 | 2:135,621,107 | G/A | — | uncertain significance |
| rs776256474 | 2:135,621,133 | G/A | — | uncertain significance |
| rs1687950794 | 2:135,621,168 | C/A | — | uncertain significance |
| rs756194740 | 2:135,621,169 | C/G | — | uncertain significance |
| rs777997475 | 2:135,621,171 | G/A | — | likely benign |
| rs779680562 | 2:135,621,176 | C/T | — | uncertain significance |
| rs1687952336 | 2:135,621,185 | T/C | — | uncertain significance |
| rs148826882 | 2:135,621,200 | C/T | — | uncertain significance |
| rs774566936 | 2:135,621,211 | G/A | — | likely benign |
| rs969976018 | 2:135,625,200 | A/G | — | uncertain significance |
| rs7580655 | 2:135,627,175 | G/C | — | — |
| rs2467369875 | 2:135,628,576 | A/G | — | uncertain significance |
| rs138679619 | 2:135,628,621 | G/A | — | uncertain significance |
| rs6711390 | 2:135,629,439 | C/A | — | — |
| rs765944905 | 2:135,630,025 | G/T | — | uncertain significance |
| rs377498690 | 2:135,630,075 | A/G | — | uncertain significance |
| rs2467377112 | 2:135,630,077 | G/A | — | uncertain significance |
| rs984201721 | 2:135,630,083 | A/C | — | uncertain significance |
| rs139962846 | 2:135,630,112 | C/A | — | uncertain significance |
| rs138304352 | 2:135,630,127 | G/A | — | likely benign |
| rs752419666 | 2:135,630,170 | G/C | — | uncertain significance |
| rs151324307 | 2:135,630,186 | A/G | — | uncertain significance |
| rs6430553 | 2:135,631,400 | C/T | intron variant | — |
| rs6738113 | 2:135,634,581 | G/A | intron variant | — |
| rs1446525 | 2:135,637,847 | G/C | — | — |
| rs12473839 | 2:135,638,044 | C/T | intron variant | — |
| rs6430554 | 2:135,638,461 | C/T | intron variant | — |
| rs1348790 | 2:135,639,975 | C/A | — | — |
| rs111674445 | 2:135,642,719 | T/C | — | — |
| rs62168869 | 2:135,646,779 | G/C | — | — |
| rs55865348 | 2:135,649,805 | T/A | — | — |
| rs7593049 | 2:135,653,355 | C/T | intron variant | — |
| rs1026003140 | 2:135,655,927 | G/A | — | uncertain significance |
| rs775129424 | 2:135,655,953 | G/A | missense variant | — |
| rs369586948 | 2:135,656,010 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.