N-Acetylglucosamine-1-Phosphotransferase, Alpha/Beta Subunits

Alternative Names

  • GNPTAB
  • GNPTA
  • MGC4170
Back to search Result
OMIM Number

607840

NCBI Gene ID

79158

Uniprot ID

Q3T906

Length

85,461 bases

No. of Exons

23

No. of isoforms

2

Protein Name

N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

Molecular Mass

143622 Da

Amino Acid Count

1256

Genomic Location

chr12:101,745,498-101,830,958

Gene Map Locus
12q23.2

Description

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. 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024312.4:c.3503_3504delSaudi Arabia; United A...NC_000012.12:g.101753472_101753473delPathogenicPathogenicMucolipidosis II Alpha/BetaNG_021243.1:g.82397_82398del; NM_024312.4:c.3503_3504del; NP_077288.2:p.Leu1168GlnfsTer5340028922771
NM_024312.5:c.3653delSaudi ArabiaNC_000012.12:g.101749141delPathogenicPathogenicMucolipidosis II Alpha/BetaNG_021243.1:g.86727del; NM_024312.5:c.3653del; NP_077288.2:p.Thr1218AsnfsTer21252037
© CAGS 2024. All rights reserved.