SLC37A4 solute carrier family 37 member 4

Gene info

Synonyms

Glucose-6-phosphate exchanger SLC37A4|glucose-6-phosphatase transporter|sugar-phosphate exchange protein 4

Previous symbol

G6PT1|G6PT2|G6PT3

External ID

HGNC: 4061
Entrez Gene: 2542
Ensembl: ENSG00000137700
UCSC: uc058idd.1
OMIM: 602671
UniProtKB: O43826

Disease info

Disease

None

CHD Phenotype

  • Tetralogy of fallot
  • Ventricular septal defect

Extra Cardiac Phenotype

Liver dysfunction, coagulation deficiency

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

1316650

Variant info

Clinvar

SLC37A4

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for SLC37A4.

Selected References

  1. Ng, B. G., Sosicka, P., Fenaille, F., Harroche, A., Vuillaumier-Barrot, S., Porterfield, M., Xia, Z.-J., Wagner, S., Bamshad, M. J., Vergnes-Boiteux, M.-C., Cholet, S., Dalton, S., Dell, A., Dupré, T., Fiore, M., Haslam, S. M., Huguenin, Y., Kumagai, T., Kulik, M., … Freeze, H. H. (2021). A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. The American Journal of Human Genetics, 108(6), 1040–1052. https://doi.org/10.1016/j.ajhg.2021.04.013 DOI:10.1016/j.ajhg.2021.04.013 PMID:33964207