ALG5

ALG5 dolichyl-phosphate beta-glucosyltransferase

Summary

This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

Known Variants25 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75219310513:37,524,092C/T—uncertain significance
rs37001624613:37,524,128C/T—uncertain significance
rs101902411013:37,524,138T/C—uncertain significance
rs77441064813:37,524,160T/G—uncertain significance
rs205882331513:37,526,711T/C—uncertain significance
rs76354955613:37,526,717G/C—uncertain significance
rs250148462813:37,539,712C/T—pathogenic
rs76605367013:37,539,715C/T—uncertain significance
rs250148472113:37,539,730G/C—uncertain significance
rs14824699413:37,539,738C/T—likely benign
rs78145635013:37,539,739G/A—uncertain significance
rs53482263213:37,539,791T/C—uncertain significance
rs132677185713:37,539,813C/T—likely pathogenic
rs133283379913:37,539,850C/T—pathogenic
rs86817910213:37,539,851G/A—uncertain significance
rs74948447013:37,539,862C/T—pathogenic
rs13938021213:37,546,122T/C—uncertain significance
rs74942669913:37,559,765G/C—uncertain significance
rs77836067813:37,567,805C/T—likely benign
rs14290933613:37,569,592C/T—uncertain significance
rs36829117113:37,569,684C/T—likely benign
rs205904546913:37,569,685G/A—likely pathogenic
rs37656850513:37,573,384T/G—benign
rs14690240013:37,573,402G/A—benign
rs14757413813:37,573,407G/C—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.