Skip to content
Use your HSA or FSA funds

Gene

G6PC1

glucose-6-phosphatase catalytic subunit 1

Summary

Cytogenetic location
17q21.31
Coordinates
Chromosome 17: 42,900,799–42,914,438 (GRCh38)
Exons
5 exons across 13.6 kb
Protein
357 amino acids
Inheritance
Autosomal recessive
Also known as
GSD1a
Previous symbols
G6PT, G6PC
MANE Select transcript
ENST00000253801.7NM_000151.4
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 report relevant to this gene

  • Glycogen Storage Disease

    • Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type IaAutosomal recessive

      Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.

      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Frequent meals and uncooked cornstarch; nocturnal gastric drip feeding; empagliflozin for type Ib neutropenia; allopurinol for hyperuricemia; lipid-lowering therapy; hepatic adenoma surveillance; kidney function monitoring; liver transplantation for refractory cases or HCC

    • Glycogen Storage Disease Type IAutosomal recessive

      Caused by variants in G6PC1 (type Ia) or SLC37A4 (type Ib), which cause low blood sugar between meals, an enlarged liver and, in type Ib, low neutrophil counts and infections.

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

      Knowing allows frequent feeds with slow-release starch, and in type Ib treatment of neutropenia, which prevents dangerous low blood sugar.

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 G6PC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where G6PC1 sits. G6PC1 and 36 genes near it on chromosome 17, from 42,407,619 to 43,407,618.Chromosome 1717q21.31p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.342.6 Mb42.8 Mb43 Mb43.2 Mb43.4 MbCAVIN1: 42,402,449–42,423,322, reverse strandCAVIN1ATP6V0A1: 42,458,823–42,522,582, forward strandATP6V0A1NAGLU: 42,536,216–42,544,449, forward strandHSD17B1: 42,552,920–42,555,217, forward strandCOASY: 42,561,467–42,566,277, forward strandMLX: 42,567,067–42,573,239, forward strandMLXPSMC3IP: 42,572,310–42,577,831, reverse strandPSMC3IPRETREG3: 42,579,508–42,610,623, reverse strandRETREG3TUBG1: 42,609,411–42,615,253, forward strandTUBG1TUBG2: 42,659,223–42,667,007, forward strandTUBG2PLEKHH3: 42,667,914–42,677,064, reverse strandPLEKHH3CCR10: 42,678,889–42,683,917, reverse strandCCR10CNTNAP1: 42,682,368–42,699,993, forward strandCNTNAP1EZH1: 42,700,270–42,745,069, reverse strandEZH1RAMP2: 42,758,447–42,763,537, forward strandRAMP2VPS25: 42,773,439–42,779,600, forward strandWNK4: 42,780,593–42,797,066, forward strandCOA3: 42,793,154–42,798,719, reverse strandCOA3CNTD1: 42,798,800–42,811,587, forward strandCNTD1BECN1: 42,809,108–42,833,350, reverse strandBECN1PSME3: 42,824,385–42,843,760, forward strandPSME3AOC2: 42,844,574–42,850,707, forward strandAOC2AOC3: 42,851,130–42,858,130, forward strandAOC3G6PC1: 42,900,799–42,914,438, forward strandG6PC1AARSD1: 42,950,424–42,964,498, reverse strandAARSD1PTGES3L-AARSD1: 42,950,526–42,980,528, reverse strandPTGES3L-AARSD1PTGES3L: 42,968,035–42,980,502, reverse strandPTGES3LRUNDC1: 42,980,552–42,995,142, forward strandRUNDC1RPL27: 42,998,265–43,002,973, forward strandVAT1: 42,999,182–43,025,123, reverse strandIFI35: 43,006,740–43,014,638, forward strandRND2: 43,025,210–43,047,509, forward strandBRCA1: 43,044,292–43,170,245, reverse strandBRCA1NBR1: 43,170,317–43,211,690, forward strandNBR1TMEM106A: 43,211,835–43,220,041, forward strandTMEM106ACCDC200: 43,216,941–43,305,397, reverse strandCCDC200ARL4D: 43,398,150–43,408,660, forward strandARL4DDiagram of G6PC1: 5 exons on the forward strand of chromosome 17Exon 1: 28 known disease-causing sitesExon 2: 22 known disease-causing sitesExon 3: 11 known disease-causing sitesExon 4: 22 known disease-causing sitesExon 5: 44 known disease-causing sitesExon 1: 42,900,799–42,901,106, 308 basesExon 2: 42,903,931–42,904,040, 110 basesExon 3: 42,907,523–42,907,628, 106 basesExon 4: 42,909,303–42,909,418, 116 basesExon 5: 42,910,915–42,914,438, 3,524 bases123455′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 4.2 kb of the gene's 13.6 kb; 1,074 of those bases code for the protein.

How a genome test reads G6PC1

136

positions in G6PC1 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 13.6 kb of G6PC1, introns included, not only the 4.2 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.). G6PC1 gene: glucose-6-phosphatase catalytic subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/g6pc1

Vancouver

Dante Labs. G6PC1 gene: glucose-6-phosphatase catalytic subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/g6pc1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test