QuickView for icd (gene)

Gene Symbol:

GNPTAB Homo sapiens

Full name:

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

Synonyms:

GNPTA, ICD, N-acetylglucosamine-1-phosphotransferase subunits alpha/beta, GlcNAc phosphotransferase, UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine, glcNAc-1-phosphotransferase subunits alpha/beta, glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase, stealth protein GNPTAB

Genomic Location:

Chr 12: 100663408-100748763

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 p...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CTTTGCA_MIR527 ,  CTACCTC_LET7A_LET7B_LET7C_LET7D_LET7E_LET7F_MIR98_LET7G_LET7I

Cytogenetic Map:

12q23.2

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