GNPTAB

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

Summary

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

Known Variants1,161 total

rsidPosition (GRCh37)AllelesClassClinVar
rs145597804712:102,139,392G/T—uncertain significance
rs18089922412:102,139,478T/C—uncertain significance
rs1021965012:102,139,485T/C—benign
rs14376973412:102,139,552C/G—uncertain significance
rs195272492512:102,139,572G/A—uncertain significance
rs95306777712:102,139,699G/A—uncertain significance
rs14611976812:102,139,702A/G—benign
rs88604884112:102,139,709A/C—uncertain significance
rs11281542112:102,139,747T/G—benign
rs54303632012:102,139,782C/T—uncertain significance
rs18623733512:102,139,833C/A—uncertain significance
rs88604884212:102,139,849G/C—uncertain significance
rs86840396612:102,139,909G/C—uncertain significance
rs88604884312:102,140,022C/T—uncertain significance
rs116524282912:102,140,031T/C—uncertain significance
rs88604884412:102,140,100A/C—uncertain significance
rs19148202012:102,140,103G/A—uncertain significance
rs797463712:102,140,128A/C—benign
rs11150050412:102,140,203A/G—uncertain significance
rs18282961012:102,140,296C/A—uncertain significance
rs5726191912:102,140,330A/G—benign
rs132959063812:102,140,385T/A—uncertain significance
rs96250359712:102,140,464G/A—uncertain significance
rs88604884612:102,140,506C/T—uncertain significance
rs7575771612:102,140,619A/G—likely benign
rs254794689912:102,140,647A/G—pathogenic
rs7626731612:102,140,799C/T—likely benign
rs102419546312:102,140,839C/T—uncertain significance
rs86705869212:102,140,879G/A—uncertain significance
rs88604884812:102,140,891T/G—uncertain significance
rs7908920812:102,140,899G/A—benign
rs126417727312:102,140,948T/C—likely benign
rs254794708612:102,140,951G/T—likely benign
rs77812002312:102,140,955C/T—uncertain significance
rs105092760512:102,140,960G/A—likely benign
rs155526762612:102,140,962G/A—uncertain significance
rs213709575812:102,140,966A/G—likely benign
rs77497193112:102,140,980T/A—uncertain significance
rs254794712812:102,140,998T/C—uncertain significance
rs125105706612:102,141,002C/A—likely benign
rs15084176012:102,141,003C/T—conflicting classifications of pathogenicity
rs55631808112:102,141,006T/C—likely benign
rs156606433012:102,141,011T/C—likely benign
rs37331431612:102,141,013C/T—uncertain significance
rs74976231212:102,141,017T/C—likely benign
rs129702262212:102,141,020C/G—uncertain significance
rs76023916112:102,141,026G/A—likely benign
rs20099680112:102,141,033G/A—likely benign
rs195274757312:102,141,036A/C—likely benign
rs11775150312:102,141,103T/A—benign
rs18622173612:102,142,847T/C—likely benign
rs77239340512:102,142,861A/G—likely benign
rs77613217612:102,142,862A/G—likely benign
rs74648900212:102,142,865T/G—likely benign
rs7602181712:102,142,869T/A—likely benign
rs254794802812:102,142,871A/G—likely benign
rs88604884912:102,142,879C/G—uncertain significance
rs123991988712:102,142,882C/T—likely benign
rs136504815712:102,142,906A/G—likely benign
rs195277879012:102,142,908A/T—uncertain significance
rs213709777112:102,142,914T/C—uncertain significance
rs77292090212:102,142,917A/G—likely benign
rs254794807412:102,142,918T/C—likely benign
rs76621097612:102,142,927T/C—likely benign
rs195277968112:102,142,933A/G—likely benign
rs75156200812:102,142,936G/A—likely benign
rs213709782012:102,142,957T/A—likely benign
rs14394328912:102,142,958C/T—uncertain significance
rs3533333412:102,142,959G/Astop gainedpathogenic
rs145746559712:102,142,960A/G—likely benign
rs213709783612:102,142,966C/T—likely benign
rs155526783912:102,142,969C/T—likely pathogenic
rs3557638012:102,142,970C/T—pathogenic
rs254794812512:102,142,974G/A—likely benign
rs195278027412:102,142,976A/G—likely benign
rs37486559012:102,142,978A/C—uncertain significance
rs138931673712:102,142,979G/C—likely benign
rs254794813512:102,142,985A/C—likely benign
rs77928362212:102,142,987A/G—likely benign
rs254794813812:102,142,988G/C—likely benign
rs74621486612:102,142,989C/A—likely benign
rs1111099412:102,143,208A/G—likely benign
rs18962201312:102,146,802G/A—likely benign
rs14347032012:102,146,963G/A—likely benign
rs14798192112:102,146,975G/A—likely benign
rs653901112:102,146,983G/A—benign
rs1111099712:102,147,088T/C—benign
rs116653651812:102,147,130T/C—likely benign
rs141917869012:102,147,132T/C—likely benign
rs77404851112:102,147,135A/G—likely benign
rs254794966712:102,147,138A/C—likely benign
rs18712060612:102,147,140G/A—likely benign
rs7949367812:102,147,142G/T—benign
rs195285047612:102,147,148A/T—likely pathogenic
rs195285051112:102,147,150C/T—pathogenic
rs13785382512:102,147,154C/Tmissense variantpathogenic
rs76640875212:102,147,155C/T—likely benign
rs254794968112:102,147,157G/A—pathogenic
rs75070903612:102,147,161C/T—likely benign
rs213710184912:102,147,164A/G—likely benign

Showing 100 of 1,161 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.