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Gene

GNPTAB

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

Summary

Cytogenetic location
12q23.2
Coordinates
Chromosome 12: 101,745,499–101,830,959 (GRCh38)
Exons
21 exons across 85.5 kb
Protein
1,256 amino acids
Inheritance
Autosomal recessive
Also known as
KIAA1208, MGC4170
Previous symbols
GNPTA
MANE Select transcript
ENST00000299314.12NM_024312.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Mucolipidoses (ML II, ML III and ML IV)

    • GNPTAB-related mucolipidosis (ML II I-cell disease and ML III alpha/beta)Autosomal recessive

      Faulty tagging of lysosomal enzymes causes severe infantile coarse features, skeletal dysplasia and heart disease (ML II), or a milder later-onset form with joint stiffness and skeletal changes (ML III).

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      Care is supportive, with orthopaedic, cardiac and airway monitoring.

Broader groupings

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How GNPTAB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where GNPTAB sits. GNPTAB and 11 genes near it on chromosome 12, from 101,288,229 to 102,288,228.Chromosome 1212q23.2p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33101.4 Mb101.6 Mb101.8 Mb102 Mb102.2 MbUTP20: 101,280,095–101,386,618, forward strandUTP20ARL1: 101,365,309–101,407,794, reverse strandARL1SPIC: 101,474,914–101,487,135, forward strandSPICMYBPC1: 101,568,353–101,688,685, forward strandMYBPC1CHPT1: 101,696,947–101,778,461, forward strandCHPT1SYCP3: 101,728,646–101,739,534, reverse strandSYCP3GNPTAB: 101,745,499–101,830,959, reverse strandGNPTABDRAM1: 101,877,290–102,012,136, forward strandDRAM1WASHC3: 102,011,737–102,062,149, reverse strandWASHC3NUP37: 102,069,969–102,120,258, reverse strandNUP37PARPBP: 102,120,122–102,197,531, forward strandPARPBPPMCH: 102,196,459–102,197,833, reverse strandPMCHDiagram of GNPTAB: 21 exons on the reverse strand of chromosome 12Exon 21: 1 known disease-causing siteExon 20: 4 known disease-causing sitesExon 19: 21 known disease-causing sitesExon 18: 6 known disease-causing sitesExon 17: 9 known disease-causing sitesExon 16: 7 known disease-causing sitesExon 15: 31 known disease-causing sitesExon 14: 18 known disease-causing sitesExon 13: 118 known disease-causing sitesExon 12: 25 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 10: 14 known disease-causing sitesExon 9: 14 known disease-causing sitesExon 8: 19 known disease-causing sitesExon 7: 14 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 5: 17 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 1: 18 known disease-causing sitesExon 21: 101,745,499–101,747,241, 1,743 basesExon 20: 101,749,101–101,749,191, 91 basesExon 19: 101,753,372–101,753,539, 168 basesExon 18: 101,757,212–101,757,310, 99 basesExon 17: 101,757,572–101,757,657, 86 basesExon 16: 101,760,030–101,760,143, 114 basesExon 15: 101,761,127–101,761,346, 220 basesExon 14: 101,761,564–101,761,763, 200 basesExon 13: 101,764,202–101,765,304, 1,103 basesExon 12: 101,766,091–101,766,294, 204 basesExon 11: 101,768,037–101,768,160, 124 basesExon 10: 101,770,021–101,770,191, 171 basesExon 9: 101,770,406–101,770,585, 180 basesExon 8: 101,770,996–101,771,157, 162 basesExon 7: 101,780,152–101,780,286, 135 basesExon 6: 101,780,557–101,780,621, 65 basesExon 5: 101,786,012–101,786,217, 206 basesExon 4: 101,788,548–101,788,589, 42 basesExon 3: 101,789,938–101,790,057, 120 basesExon 2: 101,796,677–101,796,762, 86 basesExon 1: 101,830,559–101,830,959, 401 bases21201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.7 kb of the gene's 85.5 kb; 3,771 of those bases code for the protein.

How a genome test reads GNPTAB

419

positions in GNPTAB where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 85.5 kb of GNPTAB, introns included, not only the 5.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GNPTAB gene: N-acetylglucosamine-1-phosphate transferase subunits alpha and beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/gnptab

Vancouver

Dante Labs. GNPTAB gene: N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gnptab

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