N-Acetylglucosamine-1-Phosphotransferase, Gamma Subunit

Alternative Names

  • Gnptg
  • Gnptag

Associated Diseases

Mucolipidosis III Gamma
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OMIM Number

607838

NCBI Gene ID

84572

Uniprot ID

Q9UJJ9

Length

12,183 bases

No. of Exons

12

No. of isoforms

1

Protein Name

N-acetylglucosamine-1-phosphotransferase subunit gamma

Molecular Mass

33974 Da

Amino Acid Count

305

Genomic Location

chr16:1,351,930-1,364,112

Gene Map Locus
16p13.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032520.5:c.499dupUnited Arab EmiratesNC_000016.10:g.1362293dupPathogenicPathogenicMucolipidosis III GammaNG_016985.1:g.15395dup; NM_032520.5:c.499dup; NP_115909.1:p.Leu167ProfsTer32756959430437454
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