PAM
peptidylglycine alpha-amidating monooxygenase
Summary
This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs450122 | 5:102,089,175 | G/C | upstream gene variant | — |
| rs405752 | 5:102,093,736 | G/C | — | — |
| rs114555443 | 5:102,128,958 | T/C | intron variant | — |
| rs258149 | 5:102,129,125 | T/G | — | — |
| rs171802 | 5:102,129,347 | G/T | intron variant | — |
| rs201527548 | 5:102,138,873 | G/A | — | — |
| rs258243 | 5:102,167,632 | C/G | — | — |
| rs146003867 | 5:102,169,906 | A/G | intron variant | — |
| rs13175330 | 5:102,176,461 | A/G | intron variant | — |
| rs114014768 | 5:102,202,979 | T/A | — | likely benign |
| rs2230458 | 5:102,203,032 | G/C | — | benign |
| rs201199380 | 5:102,203,059 | G/A | — | uncertain significance |
| rs186040529 | 5:102,214,870 | G/A | intron variant | — |
| rs565012785 | 5:102,228,757 | G/C | — | — |
| rs753307443 | 5:102,237,088 | G/A | — | uncertain significance |
| rs72783884 | 5:102,247,916 | A/T | regulatory region variant | — |
| rs768454476 | 5:102,249,706 | T/C | — | uncertain significance |
| rs191973809 | 5:102,251,615 | A/C | intron variant | — |
| rs181340861 | 5:102,260,735 | G/A | — | likely benign |
| rs777884799 | 5:102,260,744 | A/G | — | uncertain significance |
| rs112626709 | 5:102,262,284 | T/C | — | benign |
| rs2536731203 | 5:102,262,370 | G/C | — | uncertain significance |
| rs78753846 | 5:102,282,589 | C/T | — | benign |
| rs1561998437 | 5:102,285,279 | C/A | — | uncertain significance |
| rs770682634 | 5:102,285,285 | C/A | — | uncertain significance |
| rs1240379945 | 5:102,285,287 | T/A | — | uncertain significance |
| rs747114925 | 5:102,286,470 | T/G | — | uncertain significance |
| rs749960265 | 5:102,295,613 | A/G | — | uncertain significance |
| rs2217252 | 5:102,295,723 | C/T | — | benign |
| rs150561861 | 5:102,296,875 | A/G | — | likely benign |
| rs371496728 | 5:102,296,922 | T/G | — | uncertain significance |
| rs779143883 | 5:102,296,923 | G/T | — | likely benign |
| rs1420421974 | 5:102,309,829 | A/G | — | uncertain significance |
| rs373372286 | 5:102,310,053 | T/G | — | uncertain significance |
| rs61736661 | 5:102,310,130 | A/C | — | benign |
| rs6889592 | 5:102,313,939 | G/A | intron variant | — |
| rs56372231 | 5:102,321,905 | C/T | regulatory region variant | — |
| rs200635625 | 5:102,325,991 | A/C | — | uncertain significance |
| rs760011165 | 5:102,326,008 | G/C | — | uncertain significance |
| rs3776864 | 5:102,327,868 | A/C | intron variant | — |
| rs116782923 | 5:102,331,465 | A/T | intron variant | — |
| rs1552916 | 5:102,337,740 | A/G | intron variant | — |
| rs540041583 | 5:102,338,151 | G/A | — | — |
| rs78408340 | 5:102,338,739 | C/G | missense variant | — |
| rs138392424 | 5:102,338,795 | A/G | — | uncertain significance |
| rs35658696 | 5:102,338,811 | A/G | missense variant | — |
| rs146925861 | 5:102,340,893 | A/G | — | uncertain significance |
| rs79621119 | 5:102,342,500 | A/T | — | benign |
| rs374784351 | 5:102,342,648 | T/C | — | benign |
| rs2534189451 | 5:102,343,175 | A/T | — | uncertain significance |
| rs774512034 | 5:102,343,242 | G/A | — | uncertain significance |
| rs538941587 | 5:102,343,263 | G/A | — | uncertain significance |
| rs144216702 | 5:102,343,302 | T/G | — | uncertain significance |
| rs748433228 | 5:102,343,318 | T/G | — | uncertain significance |
| rs200453170 | 5:102,343,328 | G/C | — | uncertain significance |
| rs140097535 | 5:102,343,351 | A/G | — | likely benign |
| rs1385984412 | 5:102,345,530 | C/T | — | uncertain significance |
| rs1782329618 | 5:102,353,084 | T/C | — | uncertain significance |
| rs755377607 | 5:102,360,934 | C/T | — | uncertain significance |
| rs376124243 | 5:102,361,012 | G/A | — | uncertain significance |
| rs114988246 | 5:102,363,905 | C/T | — | benign |
| rs113740014 | 5:102,363,910 | C/A | — | uncertain significance |
| rs577217239 | 5:102,363,911 | G/A | — | likely benign |
| rs2535133714 | 5:102,363,936 | T/C | — | likely benign |
| rs764680594 | 5:102,364,628 | T/A | — | uncertain significance |
| rs777006635 | 5:102,364,665 | C/T | — | uncertain significance |
| rs763704853 | 5:102,364,697 | A/C | — | uncertain significance |
| rs1229881709 | 5:102,364,718 | A/C | — | likely benign |
| rs377141909 | 5:102,364,752 | G/A | — | uncertain significance |
| rs26431 | 5:102,365,794 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.