Entrez gene ID | | 10400 |
Official gene symbol | | PEMT |
Full name | | phosphatidylethanolamine N-methyltransferase |
Aliases | | ,MGC2483,PEAMT,PEMPT,PEMT2,PNMT, |
Gene summary | | This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. The protein localizes to the endoplasmic reticulum and mitochondria-associated membranes. The gene is within the Smith-Magenis syndrome region on chromosome 17. Alternate splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq] |
Location | | Chromosome: 17 Locus: 17p11.2 |
Gene position | | 17494994 - 17408877 Map Viewer |
Gene orientation | | minus |
Gene size | | 86118 bp |
Gene sequence |
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OMIM ID | | 602391 |