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Gene

SLC37A4

solute carrier family 37 member 4

Summary

Cytogenetic location
11q23.3
Inheritance
Autosomal recessive
Also known as
GSD1b, GSD1c, GSD1d, G6PT, SPX4
Previous symbols
G6PT1, G6PT2, G6PT3
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

  • Glycogen Storage Disease

    • 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.

      • 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.

Broader groupings

  • Congenital Disorders of Glycosylation

    • 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.

      • 3 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 a genome test reads SLC37A4

158

positions in SLC37A4 where ClinVar classes a change as pathogenic or likely pathogenic

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

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • 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.). SLC37A4 gene: solute carrier family 37 member 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc37a4

Vancouver

Dante Labs. SLC37A4 gene: solute carrier family 37 member 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc37a4

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