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Gene

GMPPB

GDP-mannose pyrophosphorylase B

Summary

Cytogenetic location
3p21.31
Coordinates
Chromosome 3: 49,719,916–49,723,951 (GRCh38)
Exons
9 exons across 4 kb
Protein
360 amino acids
Inheritance
Autosomal recessive
Also known as
KIAA1851
MANE Select transcript
ENST00000308388.7NM_021971.4
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

  • Congenital Muscular Dystrophies

    • Congenital muscular dystrophy

      A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).

      • 3 GenCC submitters rate it definitive or strong

  • Congenital Myasthenic Syndrome

    • Congenital Myasthenic Syndrome (All Types)

      Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.

  • Congenital Disorders of Glycosylation

    • Alpha-DystroglycanopathiesAutosomal recessive

      Muscle diseases caused by faulty sugar attachment (O-mannosylation) to alpha-dystroglycan, ranging from severe congenital muscular dystrophy with brain and eye involvement to milder limb-girdle weakness; also covered in more detail in the Congenital Muscular Dystrophies report.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

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

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

      • 1 GenCC submitter rates 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 GMPPB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 3, with a bracket where GMPPB sits. GMPPB and 29 genes near it on chromosome 3, from 49,221,934 to 50,221,933.Chromosome 33p21.31p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2949.4 Mb49.6 Mb49.8 Mb50 Mb50.2 MbIHO1: 49,198,428–49,277,629, forward strandIHO1C3orf62: 49,268,596–49,277,236, reverse strandC3orf62USP4: 49,277,144–49,340,712, reverse strandUSP4GPX1: 49,357,174–49,358,605, reverse strandGPX1: 49,357,176–49,412,051, reverse strandRHOA: 49,359,136–49,412,998, reverse strandTCTA: 49,412,212–49,455,826, forward strandTCTAAMT: 49,416,771–49,422,685, reverse strandAMT: 49,416,777–49,429,314, reverse strandNICN1: 49,422,333–49,429,331, reverse strandNICN1DAG1: 49,468,649–49,535,624, forward strandDAG1BSN: 49,554,477–49,671,549, forward strandBSNAPEH: 49,673,818–49,683,973, forward strandMST1: 49,683,922–49,689,501, reverse strandMST1RNF123: 49,688,740–49,723,389, forward strandRNF123AMIGO3: 49,716,829–49,719,684, reverse strandAMIGO3GMPPB: 49,719,916–49,723,951, reverse strandGMPPBIP6K1: 49,724,294–49,786,557, reverse strandIP6K1CDHR4: 49,790,732–49,799,879, reverse strandCDHR4INKA1: 49,803,228–49,805,237, forward strandINKA1UBA7: 49,805,205–49,814,151, reverse strandUBA7TRAIP: 49,828,595–49,856,597, reverse strandTRAIPCAMKV: 49,857,214–49,870,064, reverse strandCAMKVMST1R: 49,886,902–49,906,130, reverse strandMST1RMON1A: 49,907,160–49,930,173, reverse strandMON1ARBM6: 49,940,007–50,100,045, forward strandRBM6RBM5: 50,088,898–50,119,021, forward strandRBM5SEMA3F: 50,155,012–50,189,075, forward strandSEMA3FGNAT1: 50,191,586–50,197,696, forward strandGNAT1SLC38A3: 50,202,871–50,221,504, forward strandSLC38A3Diagram of GMPPB: 9 exons on the reverse strand of chromosome 3Exon 9: 9 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 5 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 5 known disease-causing sitesExon 9: 49,719,916–49,721,883, 1,968 basesExon 8: 49,721,965–49,722,147, 183 basesExon 7: 49,722,231–49,722,358, 128 basesExon 6: 49,722,432–49,722,510, 79 basesExon 5: 49,722,596–49,722,754, 159 basesExon 4: 49,722,972–49,723,114, 143 basesExon 3: 49,723,254–49,723,302, 49 basesExon 2: 49,723,392–49,723,472, 81 basesExon 1: 49,723,598–49,723,951, 354 bases9876543215′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 3.1 kb of the gene's 4 kb; 1,083 of those bases code for the protein.

How a genome test reads GMPPB

50

positions in GMPPB 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 4 kb of GMPPB, introns included, not only the 3.1 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.). GMPPB gene: GDP-mannose pyrophosphorylase B. Retrieved 16 October 2026, from https://dantelabs.com/genes/gmppb

Vancouver

Dante Labs. GMPPB gene: GDP-mannose pyrophosphorylase B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gmppb

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