PEMT
phosphatidylethanolamine N-methyltransferase
Summary
Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7946 | 17:17,409,560 | C/T | missense variant | benign |
| rs1055292388 | 17:17,409,586 | G/A | — | uncertain significance |
| rs368744924 | 17:17,412,800 | C/T | — | uncertain significance |
| rs773288219 | 17:17,412,848 | C/T | — | uncertain significance |
| rs1336774178 | 17:17,415,877 | C/T | — | uncertain significance |
| rs4646406 | 17:17,417,169 | T/C | — | — |
| rs2168345 | 17:17,419,338 | G/C | intron variant | — |
| rs4646404 | 17:17,420,199 | G/A | intron variant | — |
| rs4244593 | 17:17,420,218 | T/G | intron variant | — |
| rs1108579 | 17:17,422,354 | C/T | intron variant | — |
| rs70963017 | 17:17,423,132 | T/C | intron variant | — |
| rs11658872 | 17:17,425,069 | C/T | intron variant | — |
| rs775153502 | 17:17,425,603 | C/T | — | uncertain significance |
| rs897453 | 17:17,425,631 | C/G | missense variant | — |
| rs77857768 | 17:17,425,684 | C/T | — | benign |
| rs779901301 | 17:17,425,702 | C/T | — | uncertain significance |
| rs59387776 | 17:17,430,085 | T/A | intron variant | — |
| rs10401038 | 17:17,433,591 | C/G | intron variant | — |
| rs9889584 | 17:17,434,141 | G/A | intron variant | — |
| rs12941371 | 17:17,438,318 | G/A | intron variant | — |
| rs7214152 | 17:17,440,823 | C/T | intron variant | — |
| rs4646392 | 17:17,441,359 | C/A | regulatory region variant | — |
| rs4646388 | 17:17,444,369 | G/A | intron variant | — |
| rs11651620 | 17:17,444,874 | G/T | — | — |
| rs543626126 | 17:17,447,409 | A/G | — | — |
| rs9905032 | 17:17,457,768 | G/A | intron variant | — |
| rs13342397 | 17:17,460,926 | T/C | intron variant | — |
| rs28636952 | 17:17,462,506 | T/C | intron variant | — |
| rs11654777 | 17:17,462,630 | C/G | intron variant | — |
| rs60831194 | 17:17,466,052 | G/A | intron variant | — |
| rs11658311 | 17:17,470,526 | C/T | intron variant | — |
| rs4646356 | 17:17,471,175 | G/C | — | — |
| rs4646351 | 17:17,474,143 | C/G | — | — |
| rs897450 | 17:17,475,350 | T/A | — | — |
| rs12939945 | 17:17,476,914 | T/C | intron variant | — |
| rs11871667 | 17:17,477,847 | C/A | — | — |
| rs67640348 | 17:17,479,525 | A/G | upstream gene variant | — |
| rs368053864 | 17:17,480,290 | G/A | — | uncertain significance |
| rs767735937 | 17:17,480,319 | C/A | — | uncertain significance |
| rs57277948 | 17:17,481,317 | T/G | — | — |
| rs28652618 | 17:17,482,766 | C/A | — | — |
| rs28583584 | 17:17,483,297 | G/T | — | — |
| rs2278952 | 17:17,485,584 | G/T | — | — |
| rs12325817 | 17:17,486,519 | C/T | — | — |
| rs9895028 | 17:17,489,606 | A/C | — | — |
| rs4646343 | 17:17,492,077 | G/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.