NAGPA
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Summary
Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs15951 | 16:5,075,248 | G/A | regulatory region variant | — |
| rs555935043 | 16:5,075,484 | C/A | — | uncertain significance |
| rs774734976 | 16:5,075,493 | G/T | — | uncertain significance |
| rs112032998 | 16:5,075,494 | G/A | — | likely benign |
| rs200663126 | 16:5,075,514 | G/T | — | uncertain significance |
| rs141568446 | 16:5,075,526 | C/T | — | benign |
| rs1461324630 | 16:5,075,537 | T/G | — | uncertain significance |
| rs887854 | 16:5,075,542 | A/G | — | benign |
| rs1413137050 | 16:5,075,551 | C/T | — | likely benign |
| rs181069423 | 16:5,075,570 | T/G | — | uncertain significance |
| rs554516095 | 16:5,075,588 | C/T | — | uncertain significance |
| rs780357619 | 16:5,075,598 | C/T | — | uncertain significance |
| rs7188856 | 16:5,075,633 | G/A | — | benign |
| rs149923128 | 16:5,077,157 | C/G | — | likely benign |
| rs769393414 | 16:5,077,182 | G/T | — | uncertain significance |
| rs773607591 | 16:5,077,187 | A/G | — | uncertain significance |
| rs766274695 | 16:5,077,288 | C/T | — | likely benign |
| rs182496699 | 16:5,077,289 | G/A | — | likely benign |
| rs146958181 | 16:5,077,352 | G/C | — | likely benign |
| rs924915988 | 16:5,077,375 | G/A | — | uncertain significance |
| rs367546638 | 16:5,077,875 | G/A | — | likely benign |
| rs2505736811 | 16:5,077,984 | C/T | — | uncertain significance |
| rs116864149 | 16:5,077,985 | C/T | — | benign |
| rs1450319441 | 16:5,078,044 | G/C | — | likely benign |
| rs765353528 | 16:5,078,062 | C/T | — | uncertain significance |
| rs780274520 | 16:5,078,077 | G/T | — | uncertain significance |
| rs138879372 | 16:5,078,080 | C/T | — | uncertain significance |
| rs752371706 | 16:5,078,086 | C/G | — | uncertain significance |
| rs1356099470 | 16:5,078,107 | A/G | — | uncertain significance |
| rs757866039 | 16:5,078,115 | G/A | — | uncertain significance |
| rs139526942 | 16:5,078,125 | G/A | missense variant | pathogenic |
| rs766429170 | 16:5,078,182 | C/T | — | uncertain significance |
| rs1995278 | 16:5,078,841 | T/C | — | benign |
| rs2505739257 | 16:5,078,887 | T/C | — | uncertain significance |
| rs147838773 | 16:5,078,963 | C/G | — | uncertain significance |
| rs781132322 | 16:5,078,988 | C/T | — | likely benign |
| rs141149941 | 16:5,078,989 | G/A | — | uncertain significance |
| rs375819673 | 16:5,080,437 | C/T | — | uncertain significance |
| rs766476242 | 16:5,080,439 | G/T | — | uncertain significance |
| rs1956078542 | 16:5,080,440 | T/C | — | uncertain significance |
| rs149067161 | 16:5,080,467 | A/T | — | uncertain significance |
| rs2102065 | 16:5,080,523 | C/T | — | benign |
| rs45573233 | 16:5,080,524 | G/A | upstream gene variant | — |
| rs1596667088 | 16:5,081,750 | C/T | — | likely benign |
| rs140529374 | 16:5,081,787 | T/C | — | likely benign |
| rs145897634 | 16:5,081,808 | C/T | — | uncertain significance |
| rs769141621 | 16:5,081,879 | C/T | — | likely benign |
| rs1956137135 | 16:5,083,289 | C/G | — | uncertain significance |
| rs189630368 | 16:5,083,361 | A/G | — | uncertain significance |
| rs757835068 | 16:5,083,400 | C/A | — | uncertain significance |
| rs769705244 | 16:5,083,419 | G/T | — | uncertain significance |
| rs762958744 | 16:5,083,430 | G/C | — | uncertain significance |
| rs138557190 | 16:5,083,435 | C/A | — | benign |
| rs376983449 | 16:5,083,455 | C/T | — | uncertain significance |
| rs2972272 | 16:5,083,483 | T/C | — | benign |
| rs1303790569 | 16:5,083,512 | G/T | — | uncertain significance |
| rs780256576 | 16:5,083,530 | G/A | — | uncertain significance |
| rs753960829 | 16:5,083,558 | C/G | — | uncertain significance |
| rs755458782 | 16:5,083,564 | G/C | — | uncertain significance |
| rs889971566 | 16:5,083,568 | G/A | — | uncertain significance |
| rs373128375 | 16:5,083,580 | C/T | — | likely benign |
| rs531537200 | 16:5,083,605 | G/T | — | uncertain significance |
| rs373423815 | 16:5,083,611 | C/A | — | uncertain significance |
| rs779983941 | 16:5,083,617 | G/T | — | uncertain significance |
| rs896748298 | 16:5,083,628 | C/G | — | uncertain significance |
| rs776047179 | 16:5,083,632 | C/T | — | uncertain significance |
| rs769350585 | 16:5,083,636 | C/T | — | likely benign |
| rs377257072 | 16:5,083,642 | G/A | — | likely benign |
| rs750175079 | 16:5,083,662 | T/G | — | uncertain significance |
| rs371054576 | 16:5,083,677 | G/A | — | likely benign |
| rs774894492 | 16:5,083,688 | G/A | — | uncertain significance |
| rs74952829 | 16:5,083,833 | G/A | — | benign |
| rs577968497 | 16:5,083,883 | G/T | — | likely benign |
| rs780511157 | 16:5,083,897 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.