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GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_032520 Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol GNPTG
Entrez Gene ID 84572
Full Name N-acetylglucosamine-1-phosphate transferase, gamma subunit
Synonyms C16orf27, GNPTAG, LP2537, RJD9
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p13.3

Summary This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010].
Disorder

MIM: 607838

Mucolipidosis III gamma, 252605 (3)

mRNA Protein Product Sequence Price Select
NM_032520, 288806583 NP_115909, 14249738 N-acetylglucosamine-1-phosphotransferase subunit gamma precursor ORF Sequence $300.00
KEGG
hsa04142Lysosome
Homo sapiens (human)GNPTGNP_115909.1
Pan troglodytes (chimpanzee)GNPTGXP_001159025.1
Canis lupus familiaris (dog)LOC100856506XP_003639173.1
Bos taurus (cattle)GNPTGNP_001017428.1
Mus musculus (house mouse)GnptgNP_766117.2
Rattus norvegicus (Norway rat)GnptgNP_001093963.1
Gallus gallus (chicken)GNPTGXP_414891.1
Danio rerio (zebrafish)gnptgNP_001002057.1
GeneCards GNPTG
UniProt Q9UJJ9
MIM 607838
Ensembl ENSG00000090581
HGNC 23026
HPRD 06384

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Interactant



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