GNPTG (“N-acetylglucosamine-1-phosphate transferase, gamma subunit.”) is a gene in the human body. It is one of three genes that were found to correlate with stuttering.

GNPTG
Identifiers
AliasesGNPTG, C16orf27, GNPTAG, LP2537, RJD9, N-acetylglucosamine-1-phosphate transferase gamma subunit, N-acetylglucosamine-1-phosphate transferase subunit gamma
External IDsOMIM: 607838; MGI: 2147006; HomoloGene: 13047; GeneCards: GNPTG; OMA:GNPTG - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032520

NM_172529
NM_001346737

RefSeq (protein)

NP_115909

NP_001333666
NP_766117

Location (UCSC)Chr 16: 1.35 – 1.37 MbChr 17: 25.45 – 25.46 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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The GNPTG gene codes instructions for making the gamma subunit of an enzyme called GlcNAc-1-phosphotransferase (also called N-acetylglucosamine-1-phosphate transferase). This enzyme is made up of two alpha (α), two beta (β), and two gamma (γ) subunits. GNPTAB produces the alpha and beta subunits. GlcNAc-1-phosphotransferase functions to prepare newly made enzymes for lysosome transportation (lysosomal hydrolases to the lysosome). Lysosomes, a part of an animal cells, helps break down large molecules into smaller ones that can be reused. GlcNAc-1-phosphotransferase catalyzes the N-linked glycosylation of asparagine residues with a molecule called mannose-6-phosphate (M6P). M6P acts as indicator whether a hydrolase should be transported to the lysosome or not. Once a hydrolase has the indication from an M6P, it can be transported to a lysosome.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000090581Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035521Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.