PNMT

phenylethanolamine N-methyltransferase

Summary

The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]

Known Variants26 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs149585781	17:37,822,316	G/A	missense variant	pathogenic
rs2934966	17:37,824,138	G/T	regulatory region variant	—
rs3764351	17:37,824,339	G/A	regulatory region variant	—
rs876493	17:37,824,545	G/A	regulatory region variant	—
rs747181655	17:37,824,798	G/T	—	uncertain significance
rs747980015	17:37,824,837	C/T	—	uncertain significance
rs760242109	17:37,824,850	C/T	—	uncertain significance
rs62639962	17:37,824,851	G/A	—	benign
rs759006270	17:37,824,862	G/C	—	uncertain significance
rs776814563	17:37,824,870	T/C	—	uncertain significance
rs367593603	17:37,824,904	G/A	—	uncertain significance
rs1597807869	17:37,825,890	T/G	—	uncertain significance
rs202144149	17:37,825,896	C/T	—	uncertain significance
rs760778798	17:37,825,900	C/T	—	uncertain significance
rs148717901	17:37,825,929	G/A	—	uncertain significance
rs2057282137	17:37,825,930	T/C	—	uncertain significance
rs143544820	17:37,825,977	A/G	—	uncertain significance
rs1305119932	17:37,826,034	G/C	—	uncertain significance
rs748960978	17:37,826,048	G/C	—	uncertain significance
rs1223649286	17:37,826,065	A/G	—	uncertain significance
rs2543747634	17:37,826,271	C/T	—	uncertain significance
rs34341496	17:37,826,316	G/A	—	benign
rs1390523840	17:37,826,412	C/T	—	uncertain significance
rs894322044	17:37,826,466	G/T	—	uncertain significance
rs748756615	17:37,826,527	G/A	—	likely benign
rs781391114	17:37,826,631	G/C	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.